Canonical Allele Identifier: CA413545334

Gene: OGT

Linked Data

• dbSNP Id: rs2040335088
• gnomAD v4: X-71555231-A-G
• MyVariant Identifiers: chrX:g.70775081A>G (hg19) ; chrX:g.71555231A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555231A>G , CM000685.2:g.71555231A>G	GRCh38
NC_000023.10:g.70775081A>G , CM000685.1:g.70775081A>G	GRCh37
NC_000023.9:g.70691806A>G	NCBI36
NG_015875.1:g.27170A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.701A>G	ENSP00000514559.1:p.Asn234Ser
ENST00000699750.1:c.*629A>G	ENSP00000514560.1:n.*629A>G
ENST00000699751.1:n.1278+639A>G
ENST00000699779.1:c.*3638A>G	ENSP00000514585.1:n.*3638A>G
ENST00000699780.1:c.728+639A>G	ENSP00000514586.1:n.728+639A>G
ENST00000699781.1:c.*332+639A>G	ENSP00000514587.1:n.*332+639A>G
ENST00000699782.1:c.671A>G	ENSP00000514588.1:p.Asn224Ser
ENST00000699783.1:c.740A>G	ENSP00000514589.1:p.Asn247Ser
ENST00000699784.1:c.740A>G	ENSP00000514590.1:p.Asn247Ser
ENST00000699785.1:c.*775A>G	ENSP00000514591.1:n.*775A>G
ENST00000373719.8:c.770A>G MANE Select	ENSP00000362824.3:p.Asn257Ser
ENST00000373701.7:c.740A>G	ENSP00000362805.3:p.Asn247Ser
ENST00000373719.7:c.770A>G	ENSP00000362824.3:p.Asn257Ser
ENST00000459760.1:n.147A>G
ENST00000488174.5:n.4165+639A>G
NM_181672.2:c.770A>G	NP_858058.1:p.Asn257Ser
NM_181673.2:c.740A>G	NP_858059.1:p.Asn247Ser
XM_005262308.1:c.-220+639A>G	XP_005262365.1:n.-220+639A>G
XM_017029908.1:c.-220+639A>G	XP_016885397.1:n.-220+639A>G
XM_024452467.1:c.-220+639A>G	XP_024308235.1:n.-220+639A>G
NM_181672.3:c.770A>G MANE Select	NP_858058.1:p.Asn257Ser
NM_181673.3:c.740A>G	NP_858059.1:p.Asn247Ser