Canonical Allele Identifier: CA363324399
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31271101-C-G
gnomAD v4: 6-31271101-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271101C>G , CM000668.2:g.31271101C>G GRCh38
NC_000006.11:g.31238878C>G , CM000668.1:g.31238878C>G GRCh37
NC_000006.10:g.31346857C>G NCBI36
NG_029422.2:g.6031G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.591G>C MANE Select ENSP00000365402.5:p.Glu197Asp
ENST00000376228.9:c.591G>C ENSP00000365402.5:p.Glu197Asp
ENST00000376237.8:c.*178G>C ENSP00000365412.4:n.*178G>C
ENST00000383329.7:c.591G>C ENSP00000372819.3:p.Glu197Asp
ENST00000415537.1:c.589G>C
ENST00000484378.1:n.860G>C
ENST00000487245.5:n.950G>C
ENST00000495835.1:n.780G>C
NM_002117.5:c.591G>C NP_002108.4:p.Glu197Asp
NM_002117.6:c.591G>C MANE Select NP_002108.4:p.Glu197Asp