Canonical Allele Identifier: CA449790434
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31271212-C-A
gnomAD v4: 6-31271212-C-A
MyVariant Identifiers: chr6:g.31238989C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271212C>A , CM000668.2:g.31271212C>A GRCh38
NC_000006.11:g.31238989C>A , CM000668.1:g.31238989C>A GRCh37
NC_000006.10:g.31346968C>A NCBI36
NG_029422.2:g.5920G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.480G>T MANE Select ENSP00000365402.5:p.Ala160=
ENST00000376228.9:c.480G>T ENSP00000365402.5:p.Ala160=
ENST00000376237.8:c.*67G>T ENSP00000365412.4:n.*67G>T
ENST00000383329.7:c.480G>T ENSP00000372819.3:p.Ala160=
ENST00000415537.1:c.478G>T
ENST00000484378.1:n.749G>T
ENST00000487245.5:n.839G>T
ENST00000495835.1:n.669G>T
NM_002117.5:c.480G>T NP_002108.4:p.Ala160=
NM_002117.6:c.480G>T MANE Select NP_002108.4:p.Ala160=