Canonical Allele Identifier: CA363326858
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs281860458
gnomAD v2: 6-31239077-C-A
gnomAD v3: 6-31271300-C-A
gnomAD v4: 6-31271300-C-A
MyVariant Identifiers: chr6:g.31239077C>A (hg19) chr6:g.31271300C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271300C>A , CM000668.2:g.31271300C>A GRCh38
NC_000006.11:g.31239077C>A , CM000668.1:g.31239077C>A GRCh37
NC_000006.10:g.31347056C>A NCBI36
NG_029422.2:g.5832G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.392G>T MANE Select ENSP00000365402.5:p.Gly131Val
ENST00000376228.9:c.392G>T ENSP00000365402.5:p.Gly131Val
ENST00000376237.8:c.375G>T ENSP00000365412.4:p.Arg125=
ENST00000383329.7:c.392G>T ENSP00000372819.3:p.Gly131Val
ENST00000415537.1:c.390G>T
ENST00000484378.1:n.661G>T
ENST00000487245.5:n.751G>T
ENST00000495835.1:n.581G>T
NM_002117.5:c.392G>T NP_002108.4:p.Gly131Val
NM_002117.6:c.392G>T MANE Select NP_002108.4:p.Gly131Val
Search 100 bp 5'
Search 100 bp 3'