Canonical Allele Identifier: CA363325909
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1176484439
gnomAD v2: 6-31238991-C-T
gnomAD v3: 6-31271214-C-T
gnomAD v4: 6-31271214-C-T
MyVariant Identifiers: chr6:g.31238991C>T (hg19) chr6:g.31271214C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271214C>T , CM000668.2:g.31271214C>T GRCh38
NC_000006.11:g.31238991C>T , CM000668.1:g.31238991C>T GRCh37
NC_000006.10:g.31346970C>T NCBI36
NG_029422.2:g.5918G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.478G>A MANE Select ENSP00000365402.5:p.Ala160Thr
ENST00000376228.9:c.478G>A ENSP00000365402.5:p.Ala160Thr
ENST00000376237.8:c.*65G>A ENSP00000365412.4:n.*65G>A
ENST00000383329.7:c.478G>A ENSP00000372819.3:p.Ala160Thr
ENST00000415537.1:c.476G>A
ENST00000484378.1:n.747G>A
ENST00000487245.5:n.837G>A
ENST00000495835.1:n.667G>A
NM_002117.5:c.478G>A NP_002108.4:p.Ala160Thr
NM_002117.6:c.478G>A MANE Select NP_002108.4:p.Ala160Thr
Search 100 bp 5'
Search 100 bp 3'