Canonical Allele Identifier: CA413532789

Gene: OGT

Linked Data

• ClinVar Variation Id: 2759272
• ClinVar RCV Id: RCV003564659
• MyVariant Identifiers: chrX:g.70753168A>C (hg19) ; chrX:g.71533318A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71533318A>C , CM000685.2:g.71533318A>C	GRCh38
NC_000023.10:g.70753168A>C , CM000685.1:g.70753168A>C	GRCh37
NC_000023.9:g.70669893A>C	NCBI36
NG_015875.1:g.5257A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.19A>C	ENSP00000514559.1:p.Asn7His
ENST00000699750.1:c.19A>C	ENSP00000514560.1:p.Asn7His
ENST00000699779.1:c.19A>C	ENSP00000514585.1:p.Asn7His
ENST00000699780.1:c.19A>C	ENSP00000514586.1:p.Asn7His
ENST00000699781.1:c.19A>C	ENSP00000514587.1:p.Asn7His
ENST00000699782.1:c.19A>C	ENSP00000514588.1:p.Asn7His
ENST00000699783.1:c.19A>C	ENSP00000514589.1:p.Asn7His
ENST00000699784.1:c.19A>C	ENSP00000514590.1:p.Asn7His
ENST00000699785.1:c.19A>C	ENSP00000514591.1:p.Asn7His
ENST00000373719.8:c.19A>C MANE Select	ENSP00000362824.3:p.Asn7His
ENST00000373701.7:c.19A>C	ENSP00000362805.3:p.Asn7His
ENST00000373719.7:c.19A>C	ENSP00000362824.3:p.Asn7His
ENST00000472270.1:n.191A>C
ENST00000488174.5:n.215A>C
ENST00000498566.3:n.19A>C
NM_181672.2:c.19A>C	NP_858058.1:p.Asn7His
NM_181673.2:c.19A>C	NP_858059.1:p.Asn7His
XM_017029908.1:c.-4170A>C	XP_016885397.1:n.-4170A>C
XM_024452467.1:c.-929A>C	XP_024308235.1:n.-929A>C
NM_181672.3:c.19A>C MANE Select	NP_858058.1:p.Asn7His
NM_181673.3:c.19A>C	NP_858059.1:p.Asn7His