Canonical Allele Identifier: CA125881
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15811
ClinVar RCV Id: RCV000017152
dbSNP Id: rs34182019

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177002A>G , CM000678.2:g.177002A>G GRCh38
NC_000016.9:g.227001A>G , CM000678.1:g.227001A>G GRCh37
NC_000016.8:g.167001A>G NCBI36
NG_000006.1:g.37865A>G
NG_059186.1:g.5352A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.169A>G MANE Select ENSP00000322421.5:p.Lys57Glu
ENST00000397797.1:c.73A>G ENSP00000380899.1:p.Lys25Glu
ENST00000472694.1:n.305A>G
ENST00000487791.1:n.138A>G
NM_000558.4:c.169A>G NP_000549.1:p.Lys57Glu
NM_000558.5:c.169A>G MANE Select NP_000549.1:p.Lys57Glu