Canonical Allele Identifier: CA413545032

Gene: OGT

Linked Data

• gnomAD v3: X-71555197-G-T
• gnomAD v4: X-71555197-G-T
• MyVariant Identifiers: chrX:g.70775047G>T (hg19) ; chrX:g.71555197G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555197G>T , CM000685.2:g.71555197G>T	GRCh38
NC_000023.10:g.70775047G>T , CM000685.1:g.70775047G>T	GRCh37
NC_000023.9:g.70691772G>T	NCBI36
NG_015875.1:g.27136G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.667G>T	ENSP00000514559.1:p.Ala223Ser
ENST00000699750.1:c.*595G>T	ENSP00000514560.1:n.*595G>T
ENST00000699751.1:n.1278+605G>T
ENST00000699779.1:c.*3604G>T	ENSP00000514585.1:n.*3604G>T
ENST00000699780.1:c.728+605G>T	ENSP00000514586.1:n.728+605G>T
ENST00000699781.1:c.*332+605G>T	ENSP00000514587.1:n.*332+605G>T
ENST00000699782.1:c.637G>T	ENSP00000514588.1:p.Ala213Ser
ENST00000699783.1:c.706G>T	ENSP00000514589.1:p.Ala236Ser
ENST00000699784.1:c.706G>T	ENSP00000514590.1:p.Ala236Ser
ENST00000699785.1:c.*741G>T	ENSP00000514591.1:n.*741G>T
ENST00000373719.8:c.736G>T MANE Select	ENSP00000362824.3:p.Ala246Ser
ENST00000373701.7:c.706G>T	ENSP00000362805.3:p.Ala236Ser
ENST00000373719.7:c.736G>T	ENSP00000362824.3:p.Ala246Ser
ENST00000455587.3:n.615G>T
ENST00000459760.1:n.113G>T
ENST00000488174.5:n.4165+605G>T
NM_181672.2:c.736G>T	NP_858058.1:p.Ala246Ser
NM_181673.2:c.706G>T	NP_858059.1:p.Ala236Ser
XM_005262308.1:c.-220+605G>T	XP_005262365.1:n.-220+605G>T
XM_017029908.1:c.-220+605G>T	XP_016885397.1:n.-220+605G>T
XM_024452467.1:c.-220+605G>T	XP_024308235.1:n.-220+605G>T
NM_181672.3:c.736G>T MANE Select	NP_858058.1:p.Ala246Ser
NM_181673.3:c.706G>T	NP_858059.1:p.Ala236Ser