Canonical Allele Identifier: CA413545425

Gene: OGT

Linked Data

• MyVariant Identifiers: chrX:g.70775092G>C (hg19) ; chrX:g.71555242G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555242G>C , CM000685.2:g.71555242G>C	GRCh38
NC_000023.10:g.70775092G>C , CM000685.1:g.70775092G>C	GRCh37
NC_000023.9:g.70691817G>C	NCBI36
NG_015875.1:g.27181G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.712G>C	ENSP00000514559.1:p.Val238Leu
ENST00000699750.1:c.*640G>C	ENSP00000514560.1:n.*640G>C
ENST00000699751.1:n.1278+650G>C
ENST00000699779.1:c.*3649G>C	ENSP00000514585.1:n.*3649G>C
ENST00000699780.1:c.728+650G>C	ENSP00000514586.1:n.728+650G>C
ENST00000699781.1:c.*332+650G>C	ENSP00000514587.1:n.*332+650G>C
ENST00000699782.1:c.682G>C	ENSP00000514588.1:p.Val228Leu
ENST00000699783.1:c.751G>C	ENSP00000514589.1:p.Val251Leu
ENST00000699784.1:c.751G>C	ENSP00000514590.1:p.Val251Leu
ENST00000699785.1:c.*786G>C	ENSP00000514591.1:n.*786G>C
ENST00000373719.8:c.781G>C MANE Select	ENSP00000362824.3:p.Val261Leu
ENST00000373701.7:c.751G>C	ENSP00000362805.3:p.Val251Leu
ENST00000373719.7:c.781G>C	ENSP00000362824.3:p.Val261Leu
ENST00000459760.1:n.158G>C
ENST00000488174.5:n.4165+650G>C
NM_181672.2:c.781G>C	NP_858058.1:p.Val261Leu
NM_181673.2:c.751G>C	NP_858059.1:p.Val251Leu
XM_005262308.1:c.-220+650G>C	XP_005262365.1:n.-220+650G>C
XM_017029908.1:c.-220+650G>C	XP_016885397.1:n.-220+650G>C
XM_024452467.1:c.-220+650G>C	XP_024308235.1:n.-220+650G>C
NM_181672.3:c.781G>C MANE Select	NP_858058.1:p.Val261Leu
NM_181673.3:c.751G>C	NP_858059.1:p.Val251Leu