Canonical Allele Identifier: CA136986639
Gene: HLA-DOB HGNC NCBI

Linked Data

dbSNP Id: rs1045551538
gnomAD v2: 6-32781137-C-A
gnomAD v4: 6-32813360-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32813360C>A , CM000668.2:g.32813360C>A GRCh38
NC_000006.11:g.32781137C>A , CM000668.1:g.32781137C>A GRCh37
NC_000006.10:g.32889115C>A NCBI36
NG_009793.3:g.30411G>T
NG_012008.1:g.8689G>T
NG_009793.4:g.30411G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000438763.7:c.786+80G>T MANE Select ENSP00000390020.2:n.786+80G>T
ENST00000648009.1:c.786+80G>T ENSP00000496848.1:n.786+80G>T
ENST00000438763.6:c.786+80G>T ENSP00000390020.2:n.786+80G>T
ENST00000475235.1:n.1309+80G>T
ENST00000488325.5:c.*557+80G>T ENSP00000436618.1:n.*557+80G>T
NM_002120.3:c.786+80G>T NP_002111.1:n.786+80G>T
NM_002120.4:c.786+80G>T MANE Select NP_002111.1:n.786+80G>T