Canonical Allele Identifier: CA413545376

Gene: OGT

Linked Data

• gnomAD v4: X-71555236-G-T
• MyVariant Identifiers: chrX:g.70775086G>T (hg19) ; chrX:g.71555236G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555236G>T , CM000685.2:g.71555236G>T	GRCh38
NC_000023.10:g.70775086G>T , CM000685.1:g.70775086G>T	GRCh37
NC_000023.9:g.70691811G>T	NCBI36
NG_015875.1:g.27175G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.706G>T	ENSP00000514559.1:p.Ala236Ser
ENST00000699750.1:c.*634G>T	ENSP00000514560.1:n.*634G>T
ENST00000699751.1:n.1278+644G>T
ENST00000699779.1:c.*3643G>T	ENSP00000514585.1:n.*3643G>T
ENST00000699780.1:c.728+644G>T	ENSP00000514586.1:n.728+644G>T
ENST00000699781.1:c.*332+644G>T	ENSP00000514587.1:n.*332+644G>T
ENST00000699782.1:c.676G>T	ENSP00000514588.1:p.Ala226Ser
ENST00000699783.1:c.745G>T	ENSP00000514589.1:p.Ala249Ser
ENST00000699784.1:c.745G>T	ENSP00000514590.1:p.Ala249Ser
ENST00000699785.1:c.*780G>T	ENSP00000514591.1:n.*780G>T
ENST00000373719.8:c.775G>T MANE Select	ENSP00000362824.3:p.Ala259Ser
ENST00000373701.7:c.745G>T	ENSP00000362805.3:p.Ala249Ser
ENST00000373719.7:c.775G>T	ENSP00000362824.3:p.Ala259Ser
ENST00000459760.1:n.152G>T
ENST00000488174.5:n.4165+644G>T
NM_181672.2:c.775G>T	NP_858058.1:p.Ala259Ser
NM_181673.2:c.745G>T	NP_858059.1:p.Ala249Ser
XM_005262308.1:c.-220+644G>T	XP_005262365.1:n.-220+644G>T
XM_017029908.1:c.-220+644G>T	XP_016885397.1:n.-220+644G>T
XM_024452467.1:c.-220+644G>T	XP_024308235.1:n.-220+644G>T
NM_181672.3:c.775G>T MANE Select	NP_858058.1:p.Ala259Ser
NM_181673.3:c.745G>T	NP_858059.1:p.Ala249Ser