Canonical Allele Identifier: CA413546563

Gene: OGT

Linked Data

• gnomAD v4: X-71555368-C-T
• MyVariant Identifiers: chrX:g.70775218C>T (hg19) ; chrX:g.71555368C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555368C>T , CM000685.2:g.71555368C>T	GRCh38
NC_000023.10:g.70775218C>T , CM000685.1:g.70775218C>T	GRCh37
NC_000023.9:g.70691943C>T	NCBI36
NG_015875.1:g.27307C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.838C>T	ENSP00000514559.1:p.Leu280Phe
ENST00000699750.1:c.*766C>T	ENSP00000514560.1:n.*766C>T
ENST00000699751.1:n.1278+776C>T
ENST00000699779.1:c.*3775C>T	ENSP00000514585.1:n.*3775C>T
ENST00000699780.1:c.729-586C>T	ENSP00000514586.1:n.729-586C>T
ENST00000699781.1:c.*333-586C>T	ENSP00000514587.1:n.*333-586C>T
ENST00000699782.1:c.808C>T	ENSP00000514588.1:p.Leu270Phe
ENST00000699783.1:c.877C>T	ENSP00000514589.1:p.Leu293Phe
ENST00000699784.1:c.877C>T	ENSP00000514590.1:p.Leu293Phe
ENST00000699785.1:c.*912C>T	ENSP00000514591.1:n.*912C>T
ENST00000373719.8:c.907C>T MANE Select	ENSP00000362824.3:p.Leu303Phe
ENST00000373701.7:c.877C>T	ENSP00000362805.3:p.Leu293Phe
ENST00000373719.7:c.907C>T	ENSP00000362824.3:p.Leu303Phe
ENST00000459760.1:n.284C>T
ENST00000488174.5:n.4166-586C>T
NM_181672.2:c.907C>T	NP_858058.1:p.Leu303Phe
NM_181673.2:c.877C>T	NP_858059.1:p.Leu293Phe
XM_005262308.1:c.-219-586C>T	XP_005262365.1:n.-219-586C>T
XM_017029908.1:c.-219-586C>T	XP_016885397.1:n.-219-586C>T
XM_024452467.1:c.-219-586C>T	XP_024308235.1:n.-219-586C>T
NM_181672.3:c.907C>T MANE Select	NP_858058.1:p.Leu303Phe
NM_181673.3:c.877C>T	NP_858059.1:p.Leu293Phe