HBA1 (Hemoglobin subunit alpha) variants and mutations
HBA1 (also known as Hemoglobin subunit alpha) is a human protein-coding gene encoding a hemoglobin subunit alpha protein. It contributes alpha-globin chains that pair with beta-like globins to carry oxygen in red blood cells. Deletion or inactivation reduces alpha-globin production and causes alpha-thalassemia, with severity determined by the number and function of affected alpha-globin genes. This analysis covers 639 HBA1 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes hemoglobin H disease, Alpha-thalassemia, and Autosomal dominant methemoglobinemia. Example HBA1 variants include M1?, M1K, and M1R.
Variant analysis overview
- Gene: HBA1
- Protein: Hemoglobin subunit alpha
- UniProt accession: P69905
- Organism: Homo sapiens
- Variants analyzed: 639
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 491 unspecified-consequence records; 69 synonymous variants; 53 missense variants; 21 frameshift variants; 4 in-frame deletions; 3 splice-region variants; 4 stop-gained variants; 1 in-frame insertions; 1 stop retained variant
- Prediction scores: 526 variants have prediction scores (82% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hemoglobin H disease, Alpha-thalassemia, Autosomal dominant methemoglobinemia, alpha thalassemia spectrum, Heinz body anemia, primary familial polycythemia due to EPO receptor mutation, sickle cell disease, bacterial infectious disease, anemia (phenotype), anemia, neoplasm, hemoglobin M disease.
Protein structure and variant hotspots
- Protein features: 1 domains; 2 binding sites; 21 post-translational modification sites.
- Structural context: 634 variants have structural context.
- PTM context: 72 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable HBA1 variants
Examples include M1?, M1K, M1R, M1T, M1V, V2A, V2E, V2G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- M1K (p.Met1Lys), rs1316527998, ClinGen CA393994888, ClinVar RCV003317778, MetaLR 0.82, MetaSVM 0.74, Likely pathogenic, alpha Thalassemia
- M1R (p.Met1Arg), rs111033603, ClinGen CA393992817, ClinVar RCV004018237, MetaLR 0.84, MetaSVM 0.75, Pathogenic/Likely pathogenic, alpha Thalassemia
- M1T (p.Met1Thr), rs111033603, ClinGen CA281645, ClinVar RCV000016929, ClinVar RCV003654177, MetaLR 0.84, MetaSVM 0.75, Pathogenic/Likely pathogenic, alpha Thalassemia; Heinz body anemia; Erythrocytosis, familial, 7
- M1V (p.Met1Val), rs34220980, ClinGen CA7770223, ClinVar RCV003120274, ClinVar RCV005021812, MetaLR 0.82, MetaSVM 0.81, Pathogenic, alpha Thalassemia; Erythrocytosis, familial, 7; Heinz body anemia
- V2A (p.Val2Ala), Ensembl rs33981821
- V2E (p.Val2Glu), rs33981821, UniProt VAR 002719, Ensembl rs33981821, AlphaMissense 0.36, MetaLR 0.63, other, HEMOGLOBIN THIONVILLE
- V2G (p.Val2Gly), Ensembl rs281864802
- V2L (p.Val2Leu), Ensembl rs63751178
- V2M (p.Val2Met), Ensembl rs63751178, MetaLR 0.65, MetaSVM 0.25
- L3M (p.Leu3Met), gnomAD rs1415582742
- L3P (p.Leu3Pro), Ensembl rs63750585, Likely benign, in ChongQing
- L3R (p.Leu3Arg), rs63750585, ClinGen CA276414275, ClinVar RCV003120183, Ensembl rs63750585, AlphaMissense 0.93, MetaLR 0.91, other, HEMOGLOBIN CHONGQING
- S4C (p.Ser4Cys), Ensembl rs281864556
- S4F (p.Ser4Phe), rs35850071, ClinGen CA126003, ClinVar RCV000017224, Ensembl rs35850071, AlphaMissense 0.77, MetaLR 0.89, other, HEMOGLOBIN DOUALA
- S4P (p.Ser4Pro), Ensembl rs281864479, MetaLR 0.83, MetaSVM 0.71
- P5H (p.Pro5His), Ensembl rs63750946, REVEL 0.46, MetaLR 0.62
- P5R (p.Pro5Arg), Ensembl rs63750946
- P5S (p.Pro5Ser), Ensembl rs1902143283, MetaLR 0.48, MetaSVM -0.66
- P5P (p.Pro5Pro), gnomAD 16-172927-T-C, CADD 4.41
- A6D (p.Ala6Asp), Ensembl rs281864803, Uncertain significance, not provided
- A6P (p.Ala6Pro), rs34751764, ClinGen CA125797, ClinVar RCV000017078, UniProt VAR 002722, AlphaMissense 0.08, MetaLR 0.73, other, HEMOGLOBIN KARACHI
- A6T (p.Ala6Thr), gnomAD rs34751764, MetaLR 0.63, MetaSVM -0.30, Uncertain significance, not provided
- A6V (p.Ala6Val), NCI-TCGA Cosmic COSV9928, REVEL 0.50, MetaLR 0.72, Variant assessed as somatic; moderate impact., in Karachi
- A6A (p.Ala6Ala), rs1567163204, gnomAD 16-172930-C-G, CADD 1.83
- D7A (p.Asp7Ala), rs33986902, ClinGen CA125877, ClinVar RCV000017150, UniProt VAR 002723, AlphaMissense 0.91, MetaLR 0.81, other, HEMOGLOBIN SAWARA
- D7E (p.Asp7Glu), gnomAD rs1321533413
- D7G (p.Asp7Gly), rs281864805, UniProt VAR 002724, Ensembl rs281864805, REVEL 0.84, MetaLR 0.89, Uncertain significance, not provided
- D7H (p.Asp7His), Ensembl rs281864806, Uncertain significance, not provided
- D7N (p.Asp7Asn), Ensembl rs281864806, other, HEMOGLOBIN DUNN
- D7V (p.Asp7Val), rs33986902, ClinGen CA125721, ClinVar RCV000017019, Ensembl rs33986902, AlphaMissense 0.91, MetaLR 0.81, other, HEMOGLOBIN FERNDOWN
- D7Y (p.Asp7Tyr), rs281864806, UniProt VAR 002727, Ensembl rs281864806, AlphaMissense 0.95, MetaLR 0.92, Uncertain significance, not specified
- K8E (p.Lys8Glu), Ensembl rs281864807, Benign, in Kurosaki
- K8N (p.Lys8Asn), rs281860604, ClinGen CA393992925, ClinVar RCV001001102, ClinVar RCV001832318, REVEL 0.55, MetaLR 0.84, Likely benign, not provided
- K8Q (p.Lys8Gln), Ensembl rs34817956, Likely benign, in Kurosaki
- K8R (p.Lys8Arg), Ensembl rs1828066880
- K8T (p.Lys8Thr), Ensembl rs63749921, MetaLR 0.89, MetaSVM 0.93
- K8K (p.Lys8Lys), gnomAD 16-172936-G-A, CADD 11.20
- N10K (p.Asn10Lys), rs28928885, ClinGen CA126005, ClinVar RCV000017227, gnomAD rs28928885, AlphaMissense 0.50, MetaLR 0.63, other, HEMOGLOBIN DELFZICHT
- N10S (p.Asn10Ser), gnomAD rs281860650
- N10T (p.Asn10Thr), gnomAD rs281860650, MetaLR 0.69, MetaSVM 0.64, Benign, in Broomfield
- N10D (p.Asn10Asp), gnomAD 16-172940-A-G, REVEL 0.49, MetaLR 0.66
- N10H (p.Asn10His), gnomAD 16-172940-A-C, REVEL 0.37, MetaLR 0.52
- V11A (p.Val11Ala), gnomAD rs1346801414, REVEL 0.77, AlphaMissense 0.79
- V11D (p.Val11Asp), rs1377677959, ClinGen CA393992979, ClinVar RCV002481139, AlphaMissense 0.79, MetaLR 0.90, Uncertain significance
- V11I (p.Val11Ile), gnomAD rs1301018333, MetaLR 0.61, MetaSVM -0.33
- K12E (p.Lys12Glu), rs33938574, ClinGen CA125670, ClinVar RCV000016989, UniProt VAR 002729, AlphaMissense 0.12, MetaLR 0.82, other, HEMOGLOBIN ANANTHARAJ
- K12N (p.Lys12Asn), Ensembl rs281860614, other, HEMOGLOBIN ALBANY-GEORGIA; HEMOGLOBIN ALBANY-SUMA
- K12Q (p.Lys12Gln), rs33938574, ClinGen CA125917, ClinVar RCV000017174, ClinVar RCV000017175, AlphaMissense 0.12, MetaLR 0.82, other, HEMOGLOBIN WUMING; HEMOGLOBIN J (WENCHANG-WUMING)
- A13D (p.Ala13Asp), rs35615982, ClinGen CA125781, ClinVar RCV000017068, ClinVar RCV000017069, REVEL 0.56, MetaLR 0.65, other, HEMOGLOBIN J (ALJEZUR); HEMOGLOBIN J (PARIS 1)
- A13V (p.Ala13Val), ExAC rs35615982, gnomAD rs35615982, REVEL 0.51, MetaLR 0.71, Uncertain significance, in J-Paris 1/J-Aljezur
- A14P (p.Ala14Pro), rs35331909, UniProt VAR 038150, ExAC rs35331909, TOPMed rs35331909, REVEL 0.58, MetaLR 0.66, Benign, in Ravenscourt Park
- A14S (p.Ala14Ser), ExAC rs35331909, TOPMed rs35331909, gnomAD rs35331909, REVEL 0.35, MetaLR 0.46, Uncertain significance, in Ravenscourt Park
- A14T (p.Ala14Thr), ExAC rs35331909, TOPMed rs35331909, gnomAD rs35331909, REVEL 0.28, MetaLR 0.46, Uncertain significance, not specified
- W15* (p.Trp15Ter), rs63750367, ClinGen CA393993038, ClinVar RCV001810823, Ensembl rs63750367, AlphaMissense 0.97, MetaLR 0.94, Pathogenic, in Evanston
- W15C (p.Trp15Cys), rs63750367, ClinGen CA276414368, ClinVar RCV001810982, ClinVar RCV001829444, AlphaMissense 0.97, MetaLR 0.94, Uncertain significance, alpha Thalassemia
- W15L (p.Trp15Leu), Ensembl rs281864546, Pathogenic, in Evanston
- W15R (p.Trp15Arg), rs281864810, ClinGen CA276414361, ClinVar RCV003988557, ClinVar RCV005006350, AlphaMissense 0.99, MetaLR 0.94, Likely pathogenic, not provided; alpha Thalassemia; Hemoglobin H disease
- G16C (p.Gly16Cys), rs35816645, ClinVar RCV004586324, gnomAD rs35816645, AlphaMissense 0.08, MetaLR 0.57, Uncertain significance, not specified
- G16D (p.Gly16Asp), rs34956202, ClinGen CA125565, ClinVar RCV000016902, ClinVar RCV000016903, AlphaMissense 0.13, MetaLR 0.60, Conflicting interpretations, not provided
- G16R (p.Gly16Arg), rs281864811, ClinGen CA276414371, ClinVar RCV002481142, gnomAD rs281864811, AlphaMissense 0.08, MetaLR 0.51, Likely benign, not provided
- G16S (p.Gly16Ser), rs281864811, ClinGen CA393993043, ClinVar RCV003236442, ClinVar RCV006451375, REVEL 0.41, AlphaMissense 0.08, Likely pathogenic, in Ottawa/Siam
- G16V (p.Gly16Val), gnomAD 16-172955-TG-T, CADD 25.60
- K17E (p.Lys17Glu), rs281865555, ClinGen CA125567, ClinVar RCV000016905, ClinVar RCV000016906, REVEL 0.61, MetaLR 0.79, Conflicting interpretations, not specified; not provided
- K17M (p.Lys17Met), Ensembl rs281864812, other, HEMOGLOBIN HARBIN
- K17N (p.Lys17Asn), rs281860648, ClinGen CA125684, ClinVar RCV000016996, UniProt VAR 002734, AlphaMissense 0.47, MetaLR 0.81, other, HEMOGLOBIN BEIJING
- K17T (p.Lys17Thr), Ensembl rs35210126, MetaLR 0.78, MetaSVM 0.23
- K17Q (p.Lys17Gln), gnomAD 16-172961-A-C, REVEL 0.56, MetaLR 0.76
- V18I (p.Val18Ile), gnomAD rs1478520353, MetaLR 0.50, MetaSVM -0.52
- G19C (p.Gly19Cys), gnomAD rs34504387, Uncertain significance, in Handsworth
- G19D (p.Gly19Asp), Ensembl rs63750679, other, HEMOGLOBIN AL-AIN ABU DHABI
- G19R (p.Gly19Arg), rs63750294, ClinGen CA276414398, ClinVar RCV001801164, ClinVar RCV003120692, AlphaMissense 0.59, MetaLR 0.80, Likely benign, not provided
- G19S (p.Gly19Ser), rs34504387, ClinGen CA393994970, ClinVar RCV000759780, gnomAD rs34504387, REVEL 0.47, MetaLR 0.56, Uncertain significance, not provided
- G19G (p.Gly19Gly), gnomAD 16-172969-C-T, CADD 10.00
- A20D (p.Ala20Asp), UniProt VAR 002737, Uncertain significance, in J-Kurosh
- A20E (p.Ala20Glu), rs35628685, ClinGen CA125789, ClinVar RCV000017074, UniProt VAR 002738, AlphaMissense 0.11, MetaLR 0.69, other, HEMOGLOBIN J (TASHIKUERGAN)
- A20S (p.Ala20Ser), gnomAD 16-172970-G-T, REVEL 0.38, MetaLR 0.46
- H21D (p.His21Asp), Ensembl rs34708054
- H21P (p.His21Pro), Ensembl rs281864815, Conflicting interpretations, not provided
- H21Q (p.His21Gln), rs281864502, ClinGen CA276416495, ClinVar RCV001811609, TOPMed rs281864502, AlphaMissense 0.12, MetaLR 0.75, Likely benign, not provided
- H21R (p.His21Arg), rs33943087, ClinGen CA125755, ClinVar RCV000017049, UniProt VAR 002740, AlphaMissense 0.25, MetaLR 0.85, other, HEMOGLOBIN HOBART
- H21Y (p.His21Tyr), Ensembl rs281864814, MetaLR 0.74, MetaSVM 0.12, other, HEMOGLOBIN NECKER ENFANTS-MALADES
- H21T (p.His21Thr), rs886041399, gnomAD 16-172971-CG-C, CADD 16.30
- A22D (p.Ala22Asp), rs11548605, ClinGen CA125779, ClinVar RCV000017067, UniProt VAR 002741, REVEL 0.52, MetaLR 0.73, other, HEMOGLOBIN J (NYANZA)
- A22P (p.Ala22Pro), rs34324664, ClinGen CA125723, ClinVar RCV000017020, UniProt VAR 002742, REVEL 0.57, MetaLR 0.65, other, HEMOGLOBIN FONTAINEBLEAU
- A22S (p.Ala22Ser), gnomAD rs281864817, REVEL 0.34, MetaLR 0.64, Uncertain significance, in Fontainebleau
- A22T (p.Ala22Thr), ExAC rs34324664, gnomAD rs34324664, REVEL 0.46, MetaLR 0.63
- A22V (p.Ala22Val), Ensembl rs281864816, MetaLR 0.47, MetaSVM -0.60
- A22A (p.Ala22Ala), gnomAD 16-172978-T-C, CADD 3.20
- G23D (p.Gly23Asp), rs34608326, ClinGen CA125777, ClinVar RCV000017066, UniProt VAR 002743, AlphaMissense 0.23, MetaLR 0.66, other, HEMOGLOBIN J (MEDELLIN)
- G23G (p.Gly23Gly), rs63751457, gnomAD 16-172981-C-T, CADD 16.20
- E24* (p.Glu24Ter), gnomAD rs33939620, CADD 33.00, Pathogenic, in Chad
- E24A (p.Glu24Ala), Ensembl rs281864820, Uncertain significance, alpha Thalassemia
- E24D (p.Glu24Asp), rs281860684, ClinGen CA125973, ClinVar RCV000017208, Ensembl rs281860684, AlphaMissense 0.05, MetaLR 0.59, other, HEMOGLOBIN LISBON
- E24G (p.Glu24Gly), Ensembl rs281864820, other, HEMOGLOBIN REIMS
- E24K (p.Glu24Lys), rs33939620, ClinGen CA125693, ClinVar RCV000017003, ClinVar RCV006258929, REVEL 0.54, MetaLR 0.65, Uncertain significance, not provided
- E24Q (p.Glu24Gln), rs33939620, ClinGen CA125823, ClinVar RCV000017108, gnomAD rs33939620, AlphaMissense 0.29, MetaLR 0.74, other, HEMOGLOBIN MEMPHIS
- E24V (p.Glu24Val), Ensembl rs281864820, REVEL 0.52, MetaLR 0.56, other, HEMOGLOBIN G (AUDHALI)
- E24S (p.Glu24Ser), rs1270810159, gnomAD 16-172980-GC-G, CADD 12.20
- Y25* (p.Tyr25Ter), ExAC rs750867079, gnomAD rs750867079, CADD 33.00, Pathogenic, in Luxembourg
- Y25C (p.Tyr25Cys), rs28928880, ClinGen CA125969, ClinVar RCV000017206, ClinVar RCV005237386, AlphaMissense 0.47, MetaLR 0.72, Uncertain significance, not specified
- Y25D (p.Tyr25Asp), rs281864821, ClinGen CA276414451, ClinVar RCV003110192, ClinVar RCV005230457, REVEL 0.54, AlphaMissense 0.86, Pathogenic, in Luxembourg
- Y25H (p.Tyr25His), rs281864821, UniProt VAR 002746, Ensembl rs281864821, AlphaMissense 0.86, MetaLR 0.81, other, HEMOGLOBIN LUXEMBOURG
- G26D (p.Gly26Asp), rs1902038841, ClinGen CA393993144, ClinVar RCV003331716, ClinVar RCV003477081, AlphaMissense 0.99, MetaLR 0.94, Uncertain significance
- G26G (p.Gly26Gly), rs1596569488, gnomAD 16-172990-T-G, CADD 14.20
- A27E (p.Ala27Glu), rs281864822, UniProt VAR 002747, gnomAD rs281864822, AlphaMissense 0.43, MetaLR 0.59, other, HEMOGLOBIN SHENYANG
- A27T (p.Ala27Thr), rs41467944, ClinGen CA276414463, ClinVar RCV000985730, ClinVar RCV003235439, AlphaMissense 0.13, MetaLR 0.70, Uncertain significance, in Campinas
- A27V (p.Ala27Val), rs281864822, ClinGen CA125620, ClinVar RCV000016952, ClinVar RCV006258926, REVEL 0.61, AlphaMissense 0.43, Benign, in Campinas
- E28A (p.Glu28Ala), Ensembl rs281864823, Uncertain significance, in Spanish town
- E28D (p.Glu28Asp), rs281865556, ClinGen CA276414478, ClinVar RCV000759058, UniProt VAR 002748, AlphaMissense 0.37, MetaLR 0.68, Uncertain significance, not specified
- E28G (p.Glu28Gly), rs33964507, ClinGen CA125729, ClinVar RCV000017023, ClinVar RCV000017024, REVEL 0.86, MetaLR 0.89, other, HEMOGLOBIN G (FORT WORTH); HEMOGLOBIN FORT WORTH
- E28K (p.Glu28Lys), Ensembl rs281864824, other, HEMOGLOBIN SHUANGFENG
- E28V (p.Glu28Val), Ensembl rs33964507, MetaLR 0.90, MetaSVM 0.94, Benign, in Spanish town
- A29P (p.Ala29Pro), 1000Genomes rs544436920, gnomAD rs544436920
- A29T (p.Ala29Thr), 1000Genomes rs544436920, gnomAD rs544436920
- A29V (p.Ala29Val), Ensembl rs281864500, MetaLR 0.78, MetaSVM 0.59
- L30P (p.Leu30Pro), TOPMed rs1195271113, REVEL 0.91, MetaLR 0.93, Pathogenic
- L30Q (p.Leu30Gln), TOPMed rs1195271113
- L30V (p.Leu30Val), TOPMed rs63749791, gnomAD rs63749791
- L30W (p.Leu30Trp), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- L30L (p.Leu30Leu), gnomAD 16-173000-C-T, CADD 13.70
- E31K (p.Glu31Lys), rs33993166, ClinGen CA125849, ClinVar RCV000017132, ClinVar RCV001283984, AlphaMissense 0.72, MetaLR 0.78, Conflicting interpretations, not provided
- E31Q (p.Glu31Gln), TOPMed rs33993166, gnomAD rs33993166, Uncertain significance, in O-Padova
- E31V (p.Glu31Val), Ensembl rs33946121
- E31A (p.Glu31Ala), Ensembl rs33946121, MetaLR 0.66, MetaSVM -0.05
- E31del (p.Glu31del), rs281864560, gnomAD 16-173001-TGGA-T, CADD 21.30
- E31E (p.Glu31Glu), rs1211328339, gnomAD 16-173005-G-A, CADD 12.30
- R32D (p.Arg32Asp), rs1057519637, ClinGen CA16602267, ClinVar RCV000417216, ClinVar RCV000985731, Pathogenic, in Prato
- R32G (p.Arg32Gly), Ensembl rs2142020964
- R32K (p.Arg32Lys), ExAC rs281864580, gnomAD rs281864580, Likely pathogenic, Heinz body anemia; alpha Thalassemia; Erythrocytosis, familial, 7
- R32S (p.Arg32Ser), rs111033606, TOPMed rs111033606, ClinVar RCV000016967, UniProt VAR 002752, AlphaMissense 0.99, MetaLR 0.89, Pathogenic, in Prato
- R32T (p.Arg32Thr), ExAC rs281864580, gnomAD rs281864580, Likely pathogenic, in Prato
- M33I (p.Met33Ile), rs1455943416, ClinGen CA393995041, ClinVar RCV004018219, ClinVar RCV005006362, AlphaMissense 0.96, MetaLR 0.84, Likely pathogenic, Erythrocytosis, familial, 7; Hemoglobin H disease; alpha Thalassemia
- M33K (p.Met33Lys), rs281864566, ClinGen CA276416654, ClinVar RCV001811873, ClinVar RCV003235599, AlphaMissense 0.09, MetaLR 0.80, Conflicting interpretations, not specified; alpha Thalassemia; not provided
- M33R (p.Met33Arg), TOPMed rs281864566, gnomAD rs281864566, Conflicting interpretations, not specified; alpha Thalassemia
- M33T (p.Met33Thr), TOPMed rs281864566, gnomAD rs281864566, MetaLR 0.70, MetaSVM 0.05, Uncertain significance, not provided
- F34S (p.Phe34Ser), rs41430445, ClinGen CA125642, ClinVar RCV000016970, Ensembl rs41430445, AlphaMissense 0.99, MetaLR 0.96
- F34V (p.Phe34Val), Ensembl rs1902042464, REVEL 0.87, MetaLR 0.95
- F34Y (p.Phe34Tyr), gnomAD 16-173130-T-A, REVEL 0.80, MetaLR 0.96
- L35M (p.Leu35Met), NCI-TCGA Cosmic COSV5240, cosmic curated COSV52406, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact., in Queens/Ogi
- L35P (p.Leu35Pro), gnomAD rs35203445, Uncertain significance, in Queens/Ogi
- L35R (p.Leu35Arg), rs35203445, ClinGen CA125851, ClinVar RCV000017133, ClinVar RCV000017134, AlphaMissense 0.82, MetaLR 0.64, Uncertain significance, not provided
- L35L (p.Leu35Leu), rs530720973, gnomAD 16-173132-C-T, CADD 6.55
- S36F (p.Ser36Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S36P (p.Ser36Pro), rs63750776, ClinGen CA276414554, ClinVar RCV001284140, ClinVar RCV001678591, AlphaMissense 0.91, MetaLR 0.82, Likely pathogenic
- S36Y (p.Ser36Tyr), Ensembl rs41497846
- S36T (p.Ser36Thr), gnomAD 16-173135-T-A, REVEL 0.42, MetaLR 0.52
- F37L (p.Phe37Leu), Ensembl rs63749954
- F37Y (p.Phe37Tyr), gnomAD rs1340507358, MetaLR 0.46, MetaSVM -0.52
- P38L (p.Pro38Leu), Ensembl rs35776155, REVEL 0.93, MetaLR 0.98
- P38R (p.Pro38Arg), rs35776155, ClinGen CA125686, ClinVar RCV000016998, Ensembl rs35776155, AlphaMissense 0.93, MetaLR 0.97, other, HEMOGLOBIN BOURMEDES
- P38S (p.Pro38Ser), Ensembl rs281864558
- P38P (p.Pro38Pro), gnomAD 16-173143-C-A, CADD 13.80, SIFT 0.06
- T39A (p.Thr39Ala), Ensembl rs281864504, REVEL 0.34, MetaLR 0.50
- T39I (p.Thr39Ile), Ensembl rs281860610, MetaLR 0.78, MetaSVM 0.63
- T39N (p.Thr39Asn), TOPMed rs281860683, REVEL 0.45, MetaLR 0.72
- T39P (p.Thr39Pro), cosmic curated COSV10509, Ensembl rs281864504, REVEL 0.39, MetaLR 0.57
- T39T (p.Thr39Thr), rs1280572850, gnomAD 16-173146-C-T, CADD 14.70, SIFT 0.03
- T40A (p.Thr40Ala), TOPMed rs1902152999
- T40S (p.Thr40Ser), TOPMed rs1902152999, MetaLR 0.79, MetaSVM 0.75
- T40Y (p.Thr40Tyr), gnomAD 16-173146-C-CT, CADD 29.40
- T40I (p.Thr40Ile), gnomAD 16-173148-C-T, REVEL 0.92, MetaLR 0.93
- T40T (p.Thr40Thr), rs1471328590, gnomAD 16-173149-C-T, CADD 15.40, SIFT 0.01
- K41E (p.Lys41Glu), rs34492931, ClinGen CA125799, ClinVar RCV000017079, Ensembl rs34492931, AlphaMissense 0.93, MetaLR 0.86, other, HEMOGLOBIN KARIYA
- K41M (p.Lys41Met), Ensembl rs41416747, Pathogenic; other, Erythrocytosis, familial, 7; HEMOGLOBIN KANAGAWA
- K41N (p.Lys41Asn), rs281864471, ClinVar RCV005410982, Ensembl rs281864471, AlphaMissense 0.99, MetaLR 0.91, other, HEMOGLOBIN SARATOGA SPRINGS
- K41Q (p.Lys41Gln), Ensembl rs281864827
- K41T (p.Lys41Thr), Ensembl rs41416747, MetaLR 0.88, MetaSVM 0.78
- K41S (p.Lys41Ser), gnomAD 16-173148-C-CTT, CADD 32.00
- K41P (p.Lys41Pro), gnomAD 16-173149-CAAGA-C, CADD 33.00
- T42A (p.Thr42Ala), rs281860654, ClinGen CA393993315, ClinVar RCV001000801, Ensembl rs281860654, AlphaMissense 0.75, MetaLR 0.84, Uncertain significance, in Miyano
- T42S (p.Thr42Ser), rs34890875, ClinGen CA125829, ClinVar RCV000017115, Ensembl rs34890875, REVEL 0.79, AlphaMissense 0.75, other, HEMOGLOBIN MIYANO
- Y43H (p.Tyr43His), Ensembl rs41449150
- Y43S (p.Tyr43Ser), Ensembl rs281864569
- Y43T (p.Tyr43Thr), gnomAD 16-173155-CT-C, CADD 29.70
- Y43* (p.Tyr43Ter), gnomAD 16-173158-C-A, CADD 36.00, SIFT 0.00
- F44I (p.Phe44Ile), Ensembl rs281864829, Pathogenic, in Hirosaki
- F44L (p.Phe44Leu), rs41491146, ClinGen CA276414606, ClinVar RCV000017048, UniProt VAR 002758, REVEL 0.93, MetaLR 0.99, Likely pathogenic, alpha Thalassemia
- F44V (p.Phe44Val), rs35511459, ClinGen CA125911, ClinVar RCV000017169, Ensembl rs35511459, AlphaMissense 0.99, MetaLR 0.99, other, HEMOGLOBIN TORINO
- P45A (p.Pro45Ala), Ensembl rs281860606
Public HBA1 analysis runs
- HBA1 analysis run — HBA1 (639 variants) — completed 2026-08-21