Canonical Allele Identifier: CA125701
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15713
ClinVar RCV Id: RCV000017007
dbSNP Id: rs121913127

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177391C>A , CM000678.2:g.177391C>A GRCh38
NC_000016.9:g.227390C>A , CM000678.1:g.227390C>A GRCh37
NC_000016.8:g.167390C>A NCBI36
NG_000006.1:g.38254C>A
NG_059186.1:g.5741C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.409C>A MANE Select ENSP00000322421.5:p.Leu137Met
ENST00000397797.1:c.313C>A ENSP00000380899.1:p.Leu105Met
ENST00000472694.1:n.545C>A
NM_000558.4:c.409C>A NP_000549.1:p.Leu137Met
NM_000558.5:c.409C>A MANE Select NP_000549.1:p.Leu137Met