Canonical Allele Identifier: CA413544989

Gene: OGT

Linked Data

• gnomAD v4: X-71555192-C-A
• MyVariant Identifiers: chrX:g.70775042C>A (hg19) ; chrX:g.71555192C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555192C>A , CM000685.2:g.71555192C>A	GRCh38
NC_000023.10:g.70775042C>A , CM000685.1:g.70775042C>A	GRCh37
NC_000023.9:g.70691767C>A	NCBI36
NG_015875.1:g.27131C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.662C>A	ENSP00000514559.1:p.Ala221Asp
ENST00000699750.1:c.*590C>A	ENSP00000514560.1:n.*590C>A
ENST00000699751.1:n.1278+600C>A
ENST00000699779.1:c.*3599C>A	ENSP00000514585.1:n.*3599C>A
ENST00000699780.1:c.728+600C>A	ENSP00000514586.1:n.728+600C>A
ENST00000699781.1:c.*332+600C>A	ENSP00000514587.1:n.*332+600C>A
ENST00000699782.1:c.632C>A	ENSP00000514588.1:p.Ala211Asp
ENST00000699783.1:c.701C>A	ENSP00000514589.1:p.Ala234Asp
ENST00000699784.1:c.701C>A	ENSP00000514590.1:p.Ala234Asp
ENST00000699785.1:c.*736C>A	ENSP00000514591.1:n.*736C>A
ENST00000373719.8:c.731C>A MANE Select	ENSP00000362824.3:p.Ala244Asp
ENST00000373701.7:c.701C>A	ENSP00000362805.3:p.Ala234Asp
ENST00000373719.7:c.731C>A	ENSP00000362824.3:p.Ala244Asp
ENST00000455587.3:n.610C>A
ENST00000459760.1:n.108C>A
ENST00000488174.5:n.4165+600C>A
NM_181672.2:c.731C>A	NP_858058.1:p.Ala244Asp
NM_181673.2:c.701C>A	NP_858059.1:p.Ala234Asp
XM_005262308.1:c.-220+600C>A	XP_005262365.1:n.-220+600C>A
XM_017029908.1:c.-220+600C>A	XP_016885397.1:n.-220+600C>A
XM_024452467.1:c.-220+600C>A	XP_024308235.1:n.-220+600C>A
NM_181672.3:c.731C>A MANE Select	NP_858058.1:p.Ala244Asp
NM_181673.3:c.701C>A	NP_858059.1:p.Ala234Asp