Canonical Allele Identifier: CA516728030

Gene: OGT

Linked Data

• dbSNP Id: rs2040335235
• gnomAD v4: X-71555244-G-A
• MyVariant Identifiers: chrX:g.70775094G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555244G>A , CM000685.2:g.71555244G>A	GRCh38
NC_000023.10:g.70775094G>A , CM000685.1:g.70775094G>A	GRCh37
NC_000023.9:g.70691819G>A	NCBI36
NG_015875.1:g.27183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.714G>A	ENSP00000514559.1:p.Val238=
ENST00000699750.1:c.*642G>A	ENSP00000514560.1:n.*642G>A
ENST00000699751.1:n.1278+652G>A
ENST00000699779.1:c.*3651G>A	ENSP00000514585.1:n.*3651G>A
ENST00000699780.1:c.728+652G>A	ENSP00000514586.1:n.728+652G>A
ENST00000699781.1:c.*332+652G>A	ENSP00000514587.1:n.*332+652G>A
ENST00000699782.1:c.684G>A	ENSP00000514588.1:p.Val228=
ENST00000699783.1:c.753G>A	ENSP00000514589.1:p.Val251=
ENST00000699784.1:c.753G>A	ENSP00000514590.1:p.Val251=
ENST00000699785.1:c.*788G>A	ENSP00000514591.1:n.*788G>A
ENST00000373719.8:c.783G>A MANE Select	ENSP00000362824.3:p.Val261=
ENST00000373701.7:c.753G>A	ENSP00000362805.3:p.Val251=
ENST00000373719.7:c.783G>A	ENSP00000362824.3:p.Val261=
ENST00000459760.1:n.160G>A
ENST00000488174.5:n.4165+652G>A
NM_181672.2:c.783G>A	NP_858058.1:p.Val261=
NM_181673.2:c.753G>A	NP_858059.1:p.Val251=
XM_005262308.1:c.-220+652G>A	XP_005262365.1:n.-220+652G>A
XM_017029908.1:c.-220+652G>A	XP_016885397.1:n.-220+652G>A
XM_024452467.1:c.-220+652G>A	XP_024308235.1:n.-220+652G>A
NM_181672.3:c.783G>A MANE Select	NP_858058.1:p.Val261=
NM_181673.3:c.753G>A	NP_858059.1:p.Val251=