Canonical Allele Identifier: CA10447597

Gene: OGT

Linked Data

• ClinVar Variation Id: 745173
• ClinVar RCV Id: RCV000921682
• dbSNP Id: rs777634651
• ExAC: X:70775146 A / G
• gnomAD v2: X-70775146-A-G
• gnomAD v3: X-71555296-A-G
• gnomAD v4: X-71555296-A-G
• MyVariant Identifiers: chrX:g.70775146A>G (hg19) ; chrX:g.71555296A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555296A>G , CM000685.2:g.71555296A>G	GRCh38
NC_000023.10:g.70775146A>G , CM000685.1:g.70775146A>G	GRCh37
NC_000023.9:g.70691871A>G	NCBI36
NG_015875.1:g.27235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.766A>G	ENSP00000514559.1:p.Ile256Val
ENST00000699750.1:c.*694A>G	ENSP00000514560.1:n.*694A>G
ENST00000699751.1:n.1278+704A>G
ENST00000699779.1:c.*3703A>G	ENSP00000514585.1:n.*3703A>G
ENST00000699780.1:c.729-658A>G	ENSP00000514586.1:n.729-658A>G
ENST00000699781.1:c.*333-658A>G	ENSP00000514587.1:n.*333-658A>G
ENST00000699782.1:c.736A>G	ENSP00000514588.1:p.Ile246Val
ENST00000699783.1:c.805A>G	ENSP00000514589.1:p.Ile269Val
ENST00000699784.1:c.805A>G	ENSP00000514590.1:p.Ile269Val
ENST00000699785.1:c.*840A>G	ENSP00000514591.1:n.*840A>G
ENST00000373719.8:c.835A>G MANE Select	ENSP00000362824.3:p.Ile279Val
ENST00000373701.7:c.805A>G	ENSP00000362805.3:p.Ile269Val
ENST00000373719.7:c.835A>G	ENSP00000362824.3:p.Ile279Val
ENST00000459760.1:n.212A>G
ENST00000488174.5:n.4166-658A>G
NM_181672.2:c.835A>G	NP_858058.1:p.Ile279Val
NM_181673.2:c.805A>G	NP_858059.1:p.Ile269Val
XM_005262308.1:c.-219-658A>G	XP_005262365.1:n.-219-658A>G
XM_017029908.1:c.-219-658A>G	XP_016885397.1:n.-219-658A>G
XM_024452467.1:c.-219-658A>G	XP_024308235.1:n.-219-658A>G
NM_181672.3:c.835A>G MANE Select	NP_858058.1:p.Ile279Val
NM_181673.3:c.805A>G	NP_858059.1:p.Ile269Val