Canonical Allele Identifier: CA363573180
Gene: HLA-DOB HGNC NCBI

Linked Data

dbSNP Id: rs1490516525
gnomAD v2: 6-32781018-G-A
gnomAD v4: 6-32813241-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32813241G>A , CM000668.2:g.32813241G>A GRCh38
NC_000006.11:g.32781018G>A , CM000668.1:g.32781018G>A GRCh37
NC_000006.10:g.32888996G>A NCBI36
NG_009793.3:g.30530C>T
NG_012008.1:g.8808C>T
NG_009793.4:g.30530C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000438763.7:c.797C>T MANE Select ENSP00000390020.2:p.Ala266Val
ENST00000648009.1:c.797C>T ENSP00000496848.1:p.Ala266Val
ENST00000438763.6:c.797C>T ENSP00000390020.2:p.Ala266Val
ENST00000475235.1:n.1320C>T
ENST00000488325.5:c.*568C>T ENSP00000436618.1:n.*568C>T
NM_002120.3:c.797C>T NP_002111.1:p.Ala266Val
NM_002120.4:c.797C>T MANE Select NP_002111.1:p.Ala266Val