Canonical Allele Identifier: CA413545152

Gene: OGT

Linked Data

• dbSNP Id: rs2040334968
• MyVariant Identifiers: chrX:g.70775060G>T (hg19) ; chrX:g.71555210G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555210G>T , CM000685.2:g.71555210G>T	GRCh38
NC_000023.10:g.70775060G>T , CM000685.1:g.70775060G>T	GRCh37
NC_000023.9:g.70691785G>T	NCBI36
NG_015875.1:g.27149G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.680G>T	ENSP00000514559.1:p.Arg227Leu
ENST00000699750.1:c.*608G>T	ENSP00000514560.1:n.*608G>T
ENST00000699751.1:n.1278+618G>T
ENST00000699779.1:c.*3617G>T	ENSP00000514585.1:n.*3617G>T
ENST00000699780.1:c.728+618G>T	ENSP00000514586.1:n.728+618G>T
ENST00000699781.1:c.*332+618G>T	ENSP00000514587.1:n.*332+618G>T
ENST00000699782.1:c.650G>T	ENSP00000514588.1:p.Arg217Leu
ENST00000699783.1:c.719G>T	ENSP00000514589.1:p.Arg240Leu
ENST00000699784.1:c.719G>T	ENSP00000514590.1:p.Arg240Leu
ENST00000699785.1:c.*754G>T	ENSP00000514591.1:n.*754G>T
ENST00000373719.8:c.749G>T MANE Select	ENSP00000362824.3:p.Arg250Leu
ENST00000373701.7:c.719G>T	ENSP00000362805.3:p.Arg240Leu
ENST00000373719.7:c.749G>T	ENSP00000362824.3:p.Arg250Leu
ENST00000455587.3:n.628G>T
ENST00000459760.1:n.126G>T
ENST00000488174.5:n.4165+618G>T
NM_181672.2:c.749G>T	NP_858058.1:p.Arg250Leu
NM_181673.2:c.719G>T	NP_858059.1:p.Arg240Leu
XM_005262308.1:c.-220+618G>T	XP_005262365.1:n.-220+618G>T
XM_017029908.1:c.-220+618G>T	XP_016885397.1:n.-220+618G>T
XM_024452467.1:c.-220+618G>T	XP_024308235.1:n.-220+618G>T
NM_181672.3:c.749G>T MANE Select	NP_858058.1:p.Arg250Leu
NM_181673.3:c.719G>T	NP_858059.1:p.Arg240Leu