Canonical Allele Identifier: CA413545844

Gene: OGT

Linked Data

• dbSNP Id: rs1156847117
• gnomAD v2: X-70775137-G-A
• gnomAD v3: X-71555287-G-A
• gnomAD v4: X-71555287-G-A
• MyVariant Identifiers: chrX:g.70775137G>A (hg19) ; chrX:g.71555287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555287G>A , CM000685.2:g.71555287G>A	GRCh38
NC_000023.10:g.70775137G>A , CM000685.1:g.70775137G>A	GRCh37
NC_000023.9:g.70691862G>A	NCBI36
NG_015875.1:g.27226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.757G>A	ENSP00000514559.1:p.Asp253Asn
ENST00000699750.1:c.*685G>A	ENSP00000514560.1:n.*685G>A
ENST00000699751.1:n.1278+695G>A
ENST00000699779.1:c.*3694G>A	ENSP00000514585.1:n.*3694G>A
ENST00000699780.1:c.729-667G>A	ENSP00000514586.1:n.729-667G>A
ENST00000699781.1:c.*333-667G>A	ENSP00000514587.1:n.*333-667G>A
ENST00000699782.1:c.727G>A	ENSP00000514588.1:p.Asp243Asn
ENST00000699783.1:c.796G>A	ENSP00000514589.1:p.Asp266Asn
ENST00000699784.1:c.796G>A	ENSP00000514590.1:p.Asp266Asn
ENST00000699785.1:c.*831G>A	ENSP00000514591.1:n.*831G>A
ENST00000373719.8:c.826G>A MANE Select	ENSP00000362824.3:p.Asp276Asn
ENST00000373701.7:c.796G>A	ENSP00000362805.3:p.Asp266Asn
ENST00000373719.7:c.826G>A	ENSP00000362824.3:p.Asp276Asn
ENST00000459760.1:n.203G>A
ENST00000488174.5:n.4166-667G>A
NM_181672.2:c.826G>A	NP_858058.1:p.Asp276Asn
NM_181673.2:c.796G>A	NP_858059.1:p.Asp266Asn
XM_005262308.1:c.-219-667G>A	XP_005262365.1:n.-219-667G>A
XM_017029908.1:c.-219-667G>A	XP_016885397.1:n.-219-667G>A
XM_024452467.1:c.-219-667G>A	XP_024308235.1:n.-219-667G>A
NM_181672.3:c.826G>A MANE Select	NP_858058.1:p.Asp276Asn
NM_181673.3:c.796G>A	NP_858059.1:p.Asp266Asn