Canonical Allele Identifier: CA276417196
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs63750950

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177361G>A , CM000678.2:g.177361G>A GRCh38
NC_000016.9:g.227360G>A , CM000678.1:g.227360G>A GRCh37
NC_000016.8:g.167360G>A NCBI36
NG_000006.1:g.38224G>A
NG_059186.1:g.5711G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.379G>A MANE Select ENSP00000322421.5:p.Asp127Asn
ENST00000397797.1:c.283G>A ENSP00000380899.1:p.Asp95Asn
ENST00000472694.1:n.515G>A
NM_000558.4:c.379G>A NP_000549.1:p.Asp127Asn
NM_000558.5:c.379G>A MANE Select NP_000549.1:p.Asp127Asn