Canonical Allele Identifier: CA413545253

Gene: OGT

Linked Data

• ClinVar Variation Id: 804282
• ClinVar RCV Id: RCV000991239
• dbSNP Id: rs1131692155
• MyVariant Identifiers: chrX:g.70775073G>C (hg19) ; chrX:g.71555223G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555223G>C , CM000685.2:g.71555223G>C	GRCh38
NC_000023.10:g.70775073G>C , CM000685.1:g.70775073G>C	GRCh37
NC_000023.9:g.70691798G>C	NCBI36
NG_015875.1:g.27162G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.693G>C	ENSP00000514559.1:p.Leu231Phe
ENST00000699750.1:c.*621G>C	ENSP00000514560.1:n.*621G>C
ENST00000699751.1:n.1278+631G>C
ENST00000699779.1:c.*3630G>C	ENSP00000514585.1:n.*3630G>C
ENST00000699780.1:c.728+631G>C	ENSP00000514586.1:n.728+631G>C
ENST00000699781.1:c.*332+631G>C	ENSP00000514587.1:n.*332+631G>C
ENST00000699782.1:c.663G>C	ENSP00000514588.1:p.Leu221Phe
ENST00000699783.1:c.732G>C	ENSP00000514589.1:p.Leu244Phe
ENST00000699784.1:c.732G>C	ENSP00000514590.1:p.Leu244Phe
ENST00000699785.1:c.*767G>C	ENSP00000514591.1:n.*767G>C
ENST00000373719.8:c.762G>C MANE Select	ENSP00000362824.3:p.Leu254Phe
ENST00000373701.7:c.732G>C	ENSP00000362805.3:p.Leu244Phe
ENST00000373719.7:c.762G>C	ENSP00000362824.3:p.Leu254Phe
ENST00000459760.1:n.139G>C
ENST00000488174.5:n.4165+631G>C
NM_181672.2:c.762G>C	NP_858058.1:p.Leu254Phe
NM_181673.2:c.732G>C	NP_858059.1:p.Leu244Phe
XM_005262308.1:c.-220+631G>C	XP_005262365.1:n.-220+631G>C
XM_017029908.1:c.-220+631G>C	XP_016885397.1:n.-220+631G>C
XM_024452467.1:c.-220+631G>C	XP_024308235.1:n.-220+631G>C
NM_181672.3:c.762G>C MANE Select	NP_858058.1:p.Leu254Phe
NM_181673.3:c.732G>C	NP_858059.1:p.Leu244Phe