Canonical Allele Identifier: CA516727924

Gene: OGT

Linked Data

• dbSNP Id: rs2040334913
• MyVariant Identifiers: chrX:g.70775055T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555205T>C , CM000685.2:g.71555205T>C	GRCh38
NC_000023.10:g.70775055T>C , CM000685.1:g.70775055T>C	GRCh37
NC_000023.9:g.70691780T>C	NCBI36
NG_015875.1:g.27144T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.675T>C	ENSP00000514559.1:p.Tyr225=
ENST00000699750.1:c.*603T>C	ENSP00000514560.1:n.*603T>C
ENST00000699751.1:n.1278+613T>C
ENST00000699779.1:c.*3612T>C	ENSP00000514585.1:n.*3612T>C
ENST00000699780.1:c.728+613T>C	ENSP00000514586.1:n.728+613T>C
ENST00000699781.1:c.*332+613T>C	ENSP00000514587.1:n.*332+613T>C
ENST00000699782.1:c.645T>C	ENSP00000514588.1:p.Tyr215=
ENST00000699783.1:c.714T>C	ENSP00000514589.1:p.Tyr238=
ENST00000699784.1:c.714T>C	ENSP00000514590.1:p.Tyr238=
ENST00000699785.1:c.*749T>C	ENSP00000514591.1:n.*749T>C
ENST00000373719.8:c.744T>C MANE Select	ENSP00000362824.3:p.Tyr248=
ENST00000373701.7:c.714T>C	ENSP00000362805.3:p.Tyr238=
ENST00000373719.7:c.744T>C	ENSP00000362824.3:p.Tyr248=
ENST00000455587.3:n.623T>C
ENST00000459760.1:n.121T>C
ENST00000488174.5:n.4165+613T>C
NM_181672.2:c.744T>C	NP_858058.1:p.Tyr248=
NM_181673.2:c.714T>C	NP_858059.1:p.Tyr238=
XM_005262308.1:c.-220+613T>C	XP_005262365.1:n.-220+613T>C
XM_017029908.1:c.-220+613T>C	XP_016885397.1:n.-220+613T>C
XM_024452467.1:c.-220+613T>C	XP_024308235.1:n.-220+613T>C
NM_181672.3:c.744T>C MANE Select	NP_858058.1:p.Tyr248=
NM_181673.3:c.714T>C	NP_858059.1:p.Tyr238=