Canonical Allele Identifier: CA2544888394
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31268952-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268952G>T , CM000668.2:g.31268952G>T GRCh38
NC_000006.11:g.31236729G>T , CM000668.1:g.31236729G>T GRCh37
NC_000006.10:g.31344708G>T NCBI36
NG_029422.2:g.8180C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.*217C>A MANE Select ENSP00000365402.5:n.*217C>A
ENST00000376228.9:c.*217C>A ENSP00000365402.5:n.*217C>A
ENST00000376237.8:c.*905C>A ENSP00000365412.4:n.*905C>A
ENST00000383329.7:c.*217C>A ENSP00000372819.3:n.*217C>A
ENST00000466892.5:n.551C>A
ENST00000470363.5:n.1076C>A
ENST00000487245.5:n.1677C>A
NM_002117.5:c.*217C>A NP_002108.4:n.*217C>A
NM_002117.6:c.*217C>A MANE Select NP_002108.4:n.*217C>A
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