Canonical Allele Identifier: CA3745654
Gene: HLA-DOB HGNC NCBI
COSMIC:
COSM3761958 (not active)
MyVariant.info:
GRCh38 chr6:g.32815309A>G
GRCh37 chr6:g.32783086A>G
Revel Score:
ENST00000447394 0.076
gnomAD v2:
6:32783086 A / G
gnomAD v3:
6:32815309 A / G
gnomAD v4:
chr6-32815309-A-G
Joint Max Group AF 0.21307724 (NFE)
Genomes Max Group AF 0.21180581 (NFE)
Exomes Max Group AF 0.2129983 (NFE)
dbSNP:
7383287
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32815309A>G , CM000668.2:g.32815309A>G GRCh38
NC_000006.11:g.32783086A>G , CM000668.1:g.32783086A>G GRCh37
NC_000006.10:g.32891064A>G NCBI36
NG_009793.3:g.28462T>C
NG_012008.1:g.6740T>C
NG_009793.4:g.28462T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000438763.7:c.96T>C MANE Select ENSP00000390020.2:p.Asp32=
ENST00000648009.1:c.96T>C ENSP00000496848.1:p.Asp32=
ENST00000438763.6:c.96T>C ENSP00000390020.2:p.Asp32=
ENST00000447394.1:c.55T>C
ENST00000452392.2:c.2025-108T>C ENSP00000391806.2:n.2025-108T>C
ENST00000475235.1:n.133T>C
ENST00000488325.5:c.92-108T>C ENSP00000436618.1:n.92-108T>C
NM_002120.3:c.96T>C NP_002111.1:p.Asp32=
NM_002120.4:c.96T>C MANE Select NP_002111.1:p.Asp32=
Search 100 bp 5'
Search 100 bp 3'