Canonical Allele Identifier: CA2677949198
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31268970-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268970G>A , CM000668.2:g.31268970G>A GRCh38
NC_000006.11:g.31236747G>A , CM000668.1:g.31236747G>A GRCh37
NC_000006.10:g.31344726G>A NCBI36
NG_029422.2:g.8162C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.*199C>T MANE Select ENSP00000365402.5:n.*199C>T
ENST00000376228.9:c.*199C>T ENSP00000365402.5:n.*199C>T
ENST00000376237.8:c.*887C>T ENSP00000365412.4:n.*887C>T
ENST00000383329.7:c.*199C>T ENSP00000372819.3:n.*199C>T
ENST00000466892.5:n.533C>T
ENST00000470363.5:n.1058C>T
ENST00000487245.5:n.1659C>T
NM_002117.5:c.*199C>T NP_002108.4:n.*199C>T
NM_002117.6:c.*199C>T MANE Select NP_002108.4:n.*199C>T