Canonical Allele Identifier: CA136868846
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs281860397
gnomAD v3: 6-31271680-T-G
gnomAD v4: 6-31271680-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271680T>G , CM000668.2:g.31271680T>G GRCh38
NC_000006.11:g.31239457T>G , CM000668.1:g.31239457T>G GRCh37
NC_000006.10:g.31347436T>G NCBI36
NG_029422.2:g.5452A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.262A>C MANE Select ENSP00000365402.5:p.Thr88Pro
ENST00000376228.9:c.262A>C ENSP00000365402.5:p.Thr88Pro
ENST00000376237.8:c.262A>C ENSP00000365412.4:p.Thr88Pro
ENST00000383329.7:c.262A>C ENSP00000372819.3:p.Thr88Pro
ENST00000415537.1:c.260A>C
ENST00000484378.1:n.281A>C
ENST00000487245.5:n.371A>C
ENST00000495835.1:n.451A>C
NM_002117.5:c.262A>C NP_002108.4:p.Thr88Pro
NM_002117.6:c.262A>C MANE Select NP_002108.4:p.Thr88Pro