Canonical Allele Identifier: CA641958808

Gene: OGT

Linked Data

• dbSNP Id: rs1252809549
• gnomAD v2: X-70774991-T-C
• MyVariant Identifiers: chrX:g.70774991T>C (hg19) ; chrX:g.71555141T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555141T>C , CM000685.2:g.71555141T>C	GRCh38
NC_000023.10:g.70774991T>C , CM000685.1:g.70774991T>C	GRCh37
NC_000023.9:g.70691716T>C	NCBI36
NG_015875.1:g.27080T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.660-49T>C	ENSP00000514559.1:n.660-49T>C
ENST00000699750.1:c.*588-49T>C	ENSP00000514560.1:n.*588-49T>C
ENST00000699751.1:n.1278+549T>C
ENST00000699779.1:c.*3597-49T>C	ENSP00000514585.1:n.*3597-49T>C
ENST00000699780.1:c.728+549T>C	ENSP00000514586.1:n.728+549T>C
ENST00000699781.1:c.*332+549T>C	ENSP00000514587.1:n.*332+549T>C
ENST00000699782.1:c.630-49T>C	ENSP00000514588.1:n.630-49T>C
ENST00000699783.1:c.699-49T>C	ENSP00000514589.1:n.699-49T>C
ENST00000699784.1:c.699-49T>C	ENSP00000514590.1:n.699-49T>C
ENST00000699785.1:c.*734-49T>C	ENSP00000514591.1:n.*734-49T>C
ENST00000373719.8:c.729-49T>C MANE Select	ENSP00000362824.3:n.729-49T>C
ENST00000373701.7:c.699-49T>C	ENSP00000362805.3:n.699-49T>C
ENST00000373719.7:c.729-49T>C	ENSP00000362824.3:n.729-49T>C
ENST00000455587.3:n.608-49T>C
ENST00000459760.1:n.106-49T>C
ENST00000488174.5:n.4165+549T>C
NM_181672.2:c.729-49T>C	NP_858058.1:n.729-49T>C
NM_181673.2:c.699-49T>C	NP_858059.1:n.699-49T>C
XM_005262308.1:c.-220+549T>C	XP_005262365.1:n.-220+549T>C
XM_017029908.1:c.-220+549T>C	XP_016885397.1:n.-220+549T>C
XM_024452467.1:c.-220+549T>C	XP_024308235.1:n.-220+549T>C
NM_181672.3:c.729-49T>C MANE Select	NP_858058.1:n.729-49T>C
NM_181673.3:c.699-49T>C	NP_858059.1:n.699-49T>C