Canonical Allele Identifier: CA1087451987
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269844-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269844G>T , CM000668.2:g.31269844G>T GRCh38
NC_000006.11:g.31237621G>T , CM000668.1:g.31237621G>T GRCh37
NC_000006.10:g.31345600G>T NCBI36
NG_029422.2:g.7288C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1015+122C>A MANE Select ENSP00000365402.5:n.1015+122C>A
ENST00000376228.9:c.1015+122C>A ENSP00000365402.5:n.1015+122C>A
ENST00000376237.8:c.*602+122C>A ENSP00000365412.4:n.*602+122C>A
ENST00000383329.7:c.1015+122C>A ENSP00000372819.3:n.1015+122C>A
ENST00000470363.5:n.455C>A
ENST00000487245.5:n.1374+122C>A
NM_002117.5:c.1015+122C>A NP_002108.4:n.1015+122C>A
NM_002117.6:c.1015+122C>A MANE Select NP_002108.4:n.1015+122C>A