Canonical Allele Identifier: CA1619077181
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1582309925
gnomAD v4: 6-31268939-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268939C>T , CM000668.2:g.31268939C>T GRCh38
NC_000006.11:g.31236716C>T , CM000668.1:g.31236716C>T GRCh37
NC_000006.10:g.31344695C>T NCBI36
NG_029422.2:g.8193G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.*230G>A MANE Select ENSP00000365402.5:n.*230G>A
ENST00000376228.9:c.*230G>A ENSP00000365402.5:n.*230G>A
ENST00000376237.8:c.*918G>A ENSP00000365412.4:n.*918G>A
ENST00000383329.7:c.*230G>A ENSP00000372819.3:n.*230G>A
ENST00000466892.5:n.564G>A
ENST00000470363.5:n.1089G>A
ENST00000487245.5:n.1690G>A
NM_002117.5:c.*230G>A NP_002108.4:n.*230G>A
NM_002117.6:c.*230G>A MANE Select NP_002108.4:n.*230G>A
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