Canonical Allele Identifier: CA136868493
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs281860436
gnomAD v4: 6-31271600-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271600G>A , CM000668.2:g.31271600G>A GRCh38
NC_000006.11:g.31239377G>A , CM000668.1:g.31239377G>A GRCh37
NC_000006.10:g.31347356G>A NCBI36
NG_029422.2:g.5532C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.342C>T MANE Select ENSP00000365402.5:p.Asp114=
ENST00000376228.9:c.342C>T ENSP00000365402.5:p.Asp114=
ENST00000376237.8:c.342C>T ENSP00000365412.4:p.Asp114=
ENST00000383329.7:c.342C>T ENSP00000372819.3:p.Asp114=
ENST00000415537.1:c.340C>T
ENST00000484378.1:n.361C>T
ENST00000487245.5:n.451C>T
ENST00000495835.1:n.531C>T
NM_002117.5:c.342C>T NP_002108.4:p.Asp114=
NM_002117.6:c.342C>T MANE Select NP_002108.4:p.Asp114=