Canonical Allele Identifier: CA125999
Gene: HBA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15876
ClinVar RCV Id: RCV000017222
dbSNP Id: rs28928884

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177292C>T , CM000678.2:g.177292C>T GRCh38
NC_000016.9:g.227291C>T , CM000678.1:g.227291C>T GRCh37
NC_000016.8:g.167291C>T NCBI36
NG_000006.1:g.38155C>T
NG_059186.1:g.5642C>T

Transcript Alleles

HGVS Amino-acid change
NM_000558.4:c.310C>T VV NP_000549.1:p.His104Tyr
NM_000558.5:c.310C>T VV MANE Preferred NP_000549.1:p.His104Tyr
ENST00000320868.9:c.310C>T ENSP00000322421.5:p.His104Tyr
ENST00000397797.1:c.214C>T ENSP00000380899.1:p.His72Tyr
ENST00000472694.1:n.446C>T