Canonical Allele Identifier: CA136862392
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1053614364
gnomAD v2: 6-31237609-C-T
gnomAD v3: 6-31269832-C-T
gnomAD v4: 6-31269832-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269832C>T , CM000668.2:g.31269832C>T GRCh38
NC_000006.11:g.31237609C>T , CM000668.1:g.31237609C>T GRCh37
NC_000006.10:g.31345588C>T NCBI36
NG_029422.2:g.7300G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.1015+134G>A MANE Select ENSP00000365402.5:n.1015+134G>A
ENST00000376228.9:c.1015+134G>A ENSP00000365402.5:n.1015+134G>A
ENST00000376237.8:c.*602+134G>A ENSP00000365412.4:n.*602+134G>A
ENST00000383329.7:c.1015+134G>A ENSP00000372819.3:n.1015+134G>A
ENST00000470363.5:n.467G>A
ENST00000487245.5:n.1374+134G>A
NM_002117.5:c.1015+134G>A NP_002108.4:n.1015+134G>A
NM_002117.6:c.1015+134G>A MANE Select NP_002108.4:n.1015+134G>A