Canonical Allele Identifier: CA363319613
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270005-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270005C>A , CM000668.2:g.31270005C>A GRCh38
NC_000006.11:g.31237782C>A , CM000668.1:g.31237782C>A GRCh37
NC_000006.10:g.31345761C>A NCBI36
NG_029422.2:g.7127G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.976G>T MANE Select ENSP00000365402.5:p.Ala326Ser
ENST00000376228.9:c.976G>T ENSP00000365402.5:p.Ala326Ser
ENST00000376237.8:c.*563G>T ENSP00000365412.4:n.*563G>T
ENST00000383329.7:c.976G>T ENSP00000372819.3:p.Ala326Ser
ENST00000470363.5:n.294G>T
ENST00000487245.5:n.1335G>T
NM_002117.5:c.976G>T NP_002108.4:p.Ala326Ser
NM_002117.6:c.976G>T MANE Select NP_002108.4:p.Ala326Ser