Canonical Allele Identifier: CA363319483
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269526-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269526C>G , CM000668.2:g.31269526C>G GRCh38
NC_000006.11:g.31237303C>G , CM000668.1:g.31237303C>G GRCh37
NC_000006.10:g.31345282C>G NCBI36
NG_029422.2:g.7606G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1016-1G>C MANE Select ENSP00000365402.5:n.1016-1G>C
ENST00000376228.9:c.1016-1G>C ENSP00000365402.5:n.1016-1G>C
ENST00000376237.8:c.*603-1G>C ENSP00000365412.4:n.*603-1G>C
ENST00000383329.7:c.1033G>C ENSP00000372819.3:p.Gly345Arg
ENST00000466892.5:n.141G>C
ENST00000470363.5:n.773G>C
ENST00000487245.5:n.1375-1G>C
NM_002117.5:c.1016-1G>C NP_002108.4:n.1016-1G>C
NM_002117.6:c.1016-1G>C MANE Select NP_002108.4:n.1016-1G>C