Canonical Allele Identifier: CA363321836
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270354-C-T
gnomAD v4: 6-31270354-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270354C>T , CM000668.2:g.31270354C>T GRCh38
NC_000006.11:g.31238131C>T , CM000668.1:g.31238131C>T GRCh37
NC_000006.10:g.31346110C>T NCBI36
NG_029422.2:g.6778G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.751G>A MANE Select ENSP00000365402.5:p.Asp251Asn
ENST00000376228.9:c.751G>A ENSP00000365402.5:p.Asp251Asn
ENST00000376237.8:c.*338G>A ENSP00000365412.4:n.*338G>A
ENST00000383329.7:c.751G>A ENSP00000372819.3:p.Asp251Asn
ENST00000415537.1:c.665-23G>A
ENST00000470363.5:n.69G>A
ENST00000487245.5:n.1110G>A
ENST00000495835.1:n.940G>A
NM_002117.5:c.751G>A NP_002108.4:p.Asp251Asn
NM_002117.6:c.751G>A MANE Select NP_002108.4:p.Asp251Asn