Canonical Allele Identifier: CA363322171
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270393-T-A
gnomAD v4: 6-31270393-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270393T>A , CM000668.2:g.31270393T>A GRCh38
NC_000006.11:g.31238170T>A , CM000668.1:g.31238170T>A GRCh37
NC_000006.10:g.31346149T>A NCBI36
NG_029422.2:g.6739A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.712A>T MANE Select ENSP00000365402.5:p.Thr238Ser
ENST00000376228.9:c.712A>T ENSP00000365402.5:p.Thr238Ser
ENST00000376237.8:c.*299A>T ENSP00000365412.4:n.*299A>T
ENST00000383329.7:c.712A>T ENSP00000372819.3:p.Thr238Ser
ENST00000415537.1:c.664+46A>T
ENST00000470363.5:n.30A>T
ENST00000487245.5:n.1071A>T
ENST00000495835.1:n.901A>T
NM_002117.5:c.712A>T NP_002108.4:p.Thr238Ser
NM_002117.6:c.712A>T MANE Select NP_002108.4:p.Thr238Ser