Canonical Allele Identifier: CA363327262
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31271340-T-G
gnomAD v4: 6-31271340-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271340T>G , CM000668.2:g.31271340T>G GRCh38
NC_000006.11:g.31239117T>G , CM000668.1:g.31239117T>G GRCh37
NC_000006.10:g.31347096T>G NCBI36
NG_029422.2:g.5792A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.352A>C MANE Select ENSP00000365402.5:p.Thr118Pro
ENST00000376228.9:c.352A>C ENSP00000365402.5:p.Thr118Pro
ENST00000376237.8:c.344-9A>C ENSP00000365412.4:n.344-9A>C
ENST00000383329.7:c.352A>C ENSP00000372819.3:p.Thr118Pro
ENST00000415537.1:c.350A>C
ENST00000484378.1:n.621A>C
ENST00000487245.5:n.711A>C
ENST00000495835.1:n.541A>C
NM_002117.5:c.352A>C NP_002108.4:p.Thr118Pro
NM_002117.6:c.352A>C MANE Select NP_002108.4:p.Thr118Pro