Canonical Allele Identifier: CA136867610
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31271285-C-A
gnomAD v4: 6-31271285-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271285C>A , CM000668.2:g.31271285C>A GRCh38
NC_000006.11:g.31239062C>A , CM000668.1:g.31239062C>A GRCh37
NC_000006.10:g.31347041C>A NCBI36
NG_029422.2:g.5847G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.407G>T MANE Select ENSP00000365402.5:p.Gly136Val
ENST00000376228.9:c.407G>T ENSP00000365402.5:p.Gly136Val
ENST00000376237.8:c.390G>T ENSP00000365412.4:p.Arg130=
ENST00000383329.7:c.407G>T ENSP00000372819.3:p.Gly136Val
ENST00000415537.1:c.405G>T
ENST00000484378.1:n.676G>T
ENST00000487245.5:n.766G>T
ENST00000495835.1:n.596G>T
NM_002117.5:c.407G>T NP_002108.4:p.Gly136Val
NM_002117.6:c.407G>T MANE Select NP_002108.4:p.Gly136Val