Canonical Allele Identifier: CA136986645
Gene: HLA-DOB HGNC NCBI

Linked Data

dbSNP Id: rs539847471
gnomAD v3: 6-32813361-T-C
gnomAD v4: 6-32813361-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32813361T>C , CM000668.2:g.32813361T>C GRCh38
NC_000006.11:g.32781138T>C , CM000668.1:g.32781138T>C GRCh37
NC_000006.10:g.32889116T>C NCBI36
NG_009793.3:g.30410A>G
NG_012008.1:g.8688A>G
NG_009793.4:g.30410A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000438763.7:c.786+79A>G MANE Select ENSP00000390020.2:n.786+79A>G
ENST00000648009.1:c.786+79A>G ENSP00000496848.1:n.786+79A>G
ENST00000438763.6:c.786+79A>G ENSP00000390020.2:n.786+79A>G
ENST00000475235.1:n.1309+79A>G
ENST00000488325.5:c.*557+79A>G ENSP00000436618.1:n.*557+79A>G
NM_002120.3:c.786+79A>G NP_002111.1:n.786+79A>G
NM_002120.4:c.786+79A>G MANE Select NP_002111.1:n.786+79A>G