Canonical Allele Identifier: CA413545097

Gene: OGT

Linked Data

• gnomAD v4: X-71555206-C-A
• COSMIC: COSM6413430 ; COSM6413431
• MyVariant Identifiers: chrX:g.70775056C>A (hg19) ; chrX:g.71555206C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555206C>A , CM000685.2:g.71555206C>A	GRCh38
NC_000023.10:g.70775056C>A , CM000685.1:g.70775056C>A	GRCh37
NC_000023.9:g.70691781C>A	NCBI36
NG_015875.1:g.27145C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.676C>A	ENSP00000514559.1:p.Leu226Ile
ENST00000699750.1:c.*604C>A	ENSP00000514560.1:n.*604C>A
ENST00000699751.1:n.1278+614C>A
ENST00000699779.1:c.*3613C>A	ENSP00000514585.1:n.*3613C>A
ENST00000699780.1:c.728+614C>A	ENSP00000514586.1:n.728+614C>A
ENST00000699781.1:c.*332+614C>A	ENSP00000514587.1:n.*332+614C>A
ENST00000699782.1:c.646C>A	ENSP00000514588.1:p.Leu216Ile
ENST00000699783.1:c.715C>A	ENSP00000514589.1:p.Leu239Ile
ENST00000699784.1:c.715C>A	ENSP00000514590.1:p.Leu239Ile
ENST00000699785.1:c.*750C>A	ENSP00000514591.1:n.*750C>A
ENST00000373719.8:c.745C>A MANE Select	ENSP00000362824.3:p.Leu249Ile
ENST00000373701.7:c.715C>A	ENSP00000362805.3:p.Leu239Ile
ENST00000373719.7:c.745C>A	ENSP00000362824.3:p.Leu249Ile
ENST00000455587.3:n.624C>A
ENST00000459760.1:n.122C>A
ENST00000488174.5:n.4165+614C>A
NM_181672.2:c.745C>A	NP_858058.1:p.Leu249Ile
NM_181673.2:c.715C>A	NP_858059.1:p.Leu239Ile
XM_005262308.1:c.-220+614C>A	XP_005262365.1:n.-220+614C>A
XM_017029908.1:c.-220+614C>A	XP_016885397.1:n.-220+614C>A
XM_024452467.1:c.-220+614C>A	XP_024308235.1:n.-220+614C>A
NM_181672.3:c.745C>A MANE Select	NP_858058.1:p.Leu249Ile
NM_181673.3:c.715C>A	NP_858059.1:p.Leu239Ile