Canonical Allele Identifier: CA363575787

Gene: HLA-DOB

Linked Data

• dbSNP Id: rs2071554
• gnomAD v2: 6-32784676-C-A
• gnomAD v4: 6-32816899-C-A
• MyVariant Identifiers: chr6:g.32784676C>A (hg19) ; chr6:g.32816899C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32816899C>A , CM000668.2:g.32816899C>A	GRCh38
NC_000006.11:g.32784676C>A , CM000668.1:g.32784676C>A	GRCh37
NC_000006.10:g.32892654C>A	NCBI36
NG_009793.3:g.26872G>T
NG_012008.1:g.5150G>T
NG_009793.4:g.26872G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000438763.7:c.53G>T MANE Select	ENSP00000390020.2:p.Arg18Leu
ENST00000648009.1:c.53G>T	ENSP00000496848.1:p.Arg18Leu
ENST00000438763.6:c.53G>T	ENSP00000390020.2:p.Arg18Leu
ENST00000447394.1:c.12G>T
ENST00000452392.2:c.1986G>T	ENSP00000391806.2:p.Pro662=
ENST00000475235.1:n.90G>T
ENST00000488325.5:c.53G>T	ENSP00000436618.1:p.Arg18Leu
NM_002120.3:c.53G>T	NP_002111.1:p.Arg18Leu
NM_002120.4:c.53G>T MANE Select	NP_002111.1:p.Arg18Leu