Canonical Allele Identifier: CA413546195

Gene: OGT

Linked Data

• MyVariant Identifiers: chrX:g.70775173C>G (hg19) ; chrX:g.71555323C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555323C>G , CM000685.2:g.71555323C>G	GRCh38
NC_000023.10:g.70775173C>G , CM000685.1:g.70775173C>G	GRCh37
NC_000023.9:g.70691898C>G	NCBI36
NG_015875.1:g.27262C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.793C>G	ENSP00000514559.1:p.Leu265Val
ENST00000699750.1:c.*721C>G	ENSP00000514560.1:n.*721C>G
ENST00000699751.1:n.1278+731C>G
ENST00000699779.1:c.*3730C>G	ENSP00000514585.1:n.*3730C>G
ENST00000699780.1:c.729-631C>G	ENSP00000514586.1:n.729-631C>G
ENST00000699781.1:c.*333-631C>G	ENSP00000514587.1:n.*333-631C>G
ENST00000699782.1:c.763C>G	ENSP00000514588.1:p.Leu255Val
ENST00000699783.1:c.832C>G	ENSP00000514589.1:p.Leu278Val
ENST00000699784.1:c.832C>G	ENSP00000514590.1:p.Leu278Val
ENST00000699785.1:c.*867C>G	ENSP00000514591.1:n.*867C>G
ENST00000373719.8:c.862C>G MANE Select	ENSP00000362824.3:p.Leu288Val
ENST00000373701.7:c.832C>G	ENSP00000362805.3:p.Leu278Val
ENST00000373719.7:c.862C>G	ENSP00000362824.3:p.Leu288Val
ENST00000459760.1:n.239C>G
ENST00000488174.5:n.4166-631C>G
NM_181672.2:c.862C>G	NP_858058.1:p.Leu288Val
NM_181673.2:c.832C>G	NP_858059.1:p.Leu278Val
XM_005262308.1:c.-219-631C>G	XP_005262365.1:n.-219-631C>G
XM_017029908.1:c.-219-631C>G	XP_016885397.1:n.-219-631C>G
XM_024452467.1:c.-219-631C>G	XP_024308235.1:n.-219-631C>G
NM_181672.3:c.862C>G MANE Select	NP_858058.1:p.Leu288Val
NM_181673.3:c.832C>G	NP_858059.1:p.Leu278Val