Canonical Allele Identifier: CA125989
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15870
ClinVar RCV Id: RCV000017216
dbSNP Id: rs41322954

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177125A>C , CM000678.2:g.177125A>C GRCh38
NC_000016.9:g.227124A>C , CM000678.1:g.227124A>C GRCh37
NC_000016.8:g.167124A>C NCBI36
NG_000006.1:g.37988A>C
NG_059186.1:g.5475A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.292A>C MANE Select ENSP00000322421.5:p.Asn98His
ENST00000397797.1:c.196A>C ENSP00000380899.1:p.Asn66His
ENST00000472694.1:n.428A>C
ENST00000487791.1:n.261A>C
NM_000558.4:c.292A>C NP_000549.1:p.Asn98His
NM_000558.5:c.292A>C MANE Select NP_000549.1:p.Asn98His