Canonical Allele Identifier: CA657729634

Gene: OGT

Linked Data

• dbSNP Id: rs1249401460
• gnomAD v3: X-71555045-A-G
• gnomAD v4: X-71555045-A-G
• COSMIC: COSN2362474
• MyVariant Identifiers: chrX:g.70774895A>G (hg19) ; chrX:g.71555045A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555045A>G , CM000685.2:g.71555045A>G	GRCh38
NC_000023.10:g.70774895A>G , CM000685.1:g.70774895A>G	GRCh37
NC_000023.9:g.70691620A>G	NCBI36
NG_015875.1:g.26984A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.660-145A>G	ENSP00000514559.1:n.660-145A>G
ENST00000699750.1:c.*588-145A>G	ENSP00000514560.1:n.*588-145A>G
ENST00000699751.1:n.1278+453A>G
ENST00000699779.1:c.*3597-145A>G	ENSP00000514585.1:n.*3597-145A>G
ENST00000699780.1:c.728+453A>G	ENSP00000514586.1:n.728+453A>G
ENST00000699781.1:c.*332+453A>G	ENSP00000514587.1:n.*332+453A>G
ENST00000699782.1:c.630-145A>G	ENSP00000514588.1:n.630-145A>G
ENST00000699783.1:c.699-145A>G	ENSP00000514589.1:n.699-145A>G
ENST00000699784.1:c.699-145A>G	ENSP00000514590.1:n.699-145A>G
ENST00000699785.1:c.*734-145A>G	ENSP00000514591.1:n.*734-145A>G
ENST00000373719.8:c.729-145A>G MANE Select	ENSP00000362824.3:n.729-145A>G
ENST00000373701.7:c.699-145A>G	ENSP00000362805.3:n.699-145A>G
ENST00000373719.7:c.729-145A>G	ENSP00000362824.3:n.729-145A>G
ENST00000455587.3:n.608-145A>G
ENST00000459760.1:n.106-145A>G
ENST00000488174.5:n.4165+453A>G
NM_181672.2:c.729-145A>G	NP_858058.1:n.729-145A>G
NM_181673.2:c.699-145A>G	NP_858059.1:n.699-145A>G
XM_005262308.1:c.-220+453A>G	XP_005262365.1:n.-220+453A>G
XM_017029908.1:c.-220+453A>G	XP_016885397.1:n.-220+453A>G
XM_024452467.1:c.-220+453A>G	XP_024308235.1:n.-220+453A>G
NM_181672.3:c.729-145A>G MANE Select	NP_858058.1:n.729-145A>G
NM_181673.3:c.699-145A>G	NP_858059.1:n.699-145A>G