Canonical Allele Identifier: CA2594558025
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31268827-A-C
gnomAD v4: 6-31268827-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268827A>C , CM000668.2:g.31268827A>C GRCh38
NC_000006.11:g.31236604A>C , CM000668.1:g.31236604A>C GRCh37
NC_000006.10:g.31344583A>C NCBI36
NG_029422.2:g.8305T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.*342T>G MANE Select ENSP00000365402.5:n.*342T>G
ENST00000376228.9:c.*342T>G ENSP00000365402.5:n.*342T>G
ENST00000376237.8:c.*1030T>G ENSP00000365412.4:n.*1030T>G
ENST00000383329.7:c.*342T>G ENSP00000372819.3:n.*342T>G
ENST00000466892.5:n.676T>G
ENST00000470363.5:n.1201T>G
ENST00000487245.5:n.1802T>G
NM_002117.5:c.*342T>G NP_002108.4:n.*342T>G
NM_002117.6:c.*342T>G MANE Select NP_002108.4:n.*342T>G
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