K12N (p.Lys12Asn) variant of HBA1 (Hemoglobin subunit alpha)

Name: HBA1 K12N (p.Lys12Asn) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

K12N (p.Lys12Asn) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar and UniProt describe it as other in the context of HEMOGLOBIN ALBANY-GEORGIA; HEMOGLOBIN ALBANY-SUMA. The record also includes published literature and structural context.

K12N (p.Lys12Asn) variant details

p.Lys12Asn
Ensembl rs281860614
other
HEMOGLOBIN ALBANY-GEORGIA; HEMOGLOBIN ALBANY-SUMA
Missense
ClinVar: other (HEMOGLOBIN ALBANY-GEORGIA; HEMOGLOBIN ALBANY-SUMA)
UniProt: Other (in Anantharaj)
Structural context available
Cited in: A new hemoglobin variant, hemoglobin Nunobiki [alpha 141 (HC3) Arg----Cys]. Notable influence of the carboxy-terminal… (PMID 3973024)
Cited in: Hb Albany-GA or alpha 2(11)(A9)Lys leads to Asn beta 2. (PMID 6860428)