Canonical Allele Identifier: CA136866805
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41560918
gnomAD v3: 6-31271161-C-T
gnomAD v4: 6-31271161-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271161C>T , CM000668.2:g.31271161C>T GRCh38
NC_000006.11:g.31238938C>T , CM000668.1:g.31238938C>T GRCh37
NC_000006.10:g.31346917C>T NCBI36
NG_029422.2:g.5971G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.531G>A MANE Select ENSP00000365402.5:p.Ala177=
ENST00000376228.9:c.531G>A ENSP00000365402.5:p.Ala177=
ENST00000376237.8:c.*118G>A ENSP00000365412.4:n.*118G>A
ENST00000383329.7:c.531G>A ENSP00000372819.3:p.Ala177=
ENST00000415537.1:c.529G>A
ENST00000484378.1:n.800G>A
ENST00000487245.5:n.890G>A
ENST00000495835.1:n.720G>A
NM_002117.5:c.531G>A NP_002108.4:p.Ala177=
NM_002117.6:c.531G>A MANE Select NP_002108.4:p.Ala177=