Canonical Allele Identifier: CA413545839

Gene: OGT

Linked Data

• MyVariant Identifiers: chrX:g.70775135T>G (hg19) ; chrX:g.71555285T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555285T>G , CM000685.2:g.71555285T>G	GRCh38
NC_000023.10:g.70775135T>G , CM000685.1:g.70775135T>G	GRCh37
NC_000023.9:g.70691860T>G	NCBI36
NG_015875.1:g.27224T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.755T>G	ENSP00000514559.1:p.Ile252Arg
ENST00000699750.1:c.*683T>G	ENSP00000514560.1:n.*683T>G
ENST00000699751.1:n.1278+693T>G
ENST00000699779.1:c.*3692T>G	ENSP00000514585.1:n.*3692T>G
ENST00000699780.1:c.729-669T>G	ENSP00000514586.1:n.729-669T>G
ENST00000699781.1:c.*333-669T>G	ENSP00000514587.1:n.*333-669T>G
ENST00000699782.1:c.725T>G	ENSP00000514588.1:p.Ile242Arg
ENST00000699783.1:c.794T>G	ENSP00000514589.1:p.Ile265Arg
ENST00000699784.1:c.794T>G	ENSP00000514590.1:p.Ile265Arg
ENST00000699785.1:c.*829T>G	ENSP00000514591.1:n.*829T>G
ENST00000373719.8:c.824T>G MANE Select	ENSP00000362824.3:p.Ile275Arg
ENST00000373701.7:c.794T>G	ENSP00000362805.3:p.Ile265Arg
ENST00000373719.7:c.824T>G	ENSP00000362824.3:p.Ile275Arg
ENST00000459760.1:n.201T>G
ENST00000488174.5:n.4166-669T>G
NM_181672.2:c.824T>G	NP_858058.1:p.Ile275Arg
NM_181673.2:c.794T>G	NP_858059.1:p.Ile265Arg
XM_005262308.1:c.-219-669T>G	XP_005262365.1:n.-219-669T>G
XM_017029908.1:c.-219-669T>G	XP_016885397.1:n.-219-669T>G
XM_024452467.1:c.-219-669T>G	XP_024308235.1:n.-219-669T>G
NM_181672.3:c.824T>G MANE Select	NP_858058.1:p.Ile275Arg
NM_181673.3:c.794T>G	NP_858059.1:p.Ile265Arg