Canonical Allele Identifier: CA136869043
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs72558132
gnomAD v3: 6-31271725-C-T
gnomAD v4: 6-31271725-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271725C>T , CM000668.2:g.31271725C>T GRCh38
NC_000006.11:g.31239502C>T , CM000668.1:g.31239502C>T GRCh37
NC_000006.10:g.31347481C>T NCBI36
NG_029422.2:g.5407G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.217G>A MANE Select ENSP00000365402.5:p.Ala73Thr
ENST00000376228.9:c.217G>A ENSP00000365402.5:p.Ala73Thr
ENST00000376237.8:c.217G>A ENSP00000365412.4:p.Ala73Thr
ENST00000383329.7:c.217G>A ENSP00000372819.3:p.Ala73Thr
ENST00000415537.1:c.215G>A
ENST00000484378.1:n.236G>A
ENST00000487245.5:n.326G>A
ENST00000495835.1:n.406G>A
NM_002117.5:c.217G>A NP_002108.4:p.Ala73Thr
NM_002117.6:c.217G>A MANE Select NP_002108.4:p.Ala73Thr