Canonical Allele Identifier: CA363319481
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269525-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269525C>T , CM000668.2:g.31269525C>T GRCh38
NC_000006.11:g.31237302C>T , CM000668.1:g.31237302C>T GRCh37
NC_000006.10:g.31345281C>T NCBI36
NG_029422.2:g.7607G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1016G>A MANE Select ENSP00000365402.5:p.Gly339Asp
ENST00000376228.9:c.1016G>A ENSP00000365402.5:p.Gly339Asp
ENST00000376237.8:c.*603G>A ENSP00000365412.4:n.*603G>A
ENST00000383329.7:c.1034G>A ENSP00000372819.3:p.Gly345Asp
ENST00000466892.5:n.142G>A
ENST00000470363.5:n.774G>A
ENST00000487245.5:n.1375G>A
NM_002117.5:c.1016G>A NP_002108.4:p.Gly339Asp
NM_002117.6:c.1016G>A MANE Select NP_002108.4:p.Gly339Asp