Canonical Allele Identifier: CA331037888

Gene: OGT

Linked Data

• dbSNP Id: rs919145144
• gnomAD v2: X-70775214-T-C
• gnomAD v4: X-71555364-T-C
• MyVariant Identifiers: chrX:g.70775214T>C (hg19) ; chrX:g.71555364T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555364T>C , CM000685.2:g.71555364T>C	GRCh38
NC_000023.10:g.70775214T>C , CM000685.1:g.70775214T>C	GRCh37
NC_000023.9:g.70691939T>C	NCBI36
NG_015875.1:g.27303T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.834T>C	ENSP00000514559.1:p.Asn278=
ENST00000699750.1:c.*762T>C	ENSP00000514560.1:n.*762T>C
ENST00000699751.1:n.1278+772T>C
ENST00000699779.1:c.*3771T>C	ENSP00000514585.1:n.*3771T>C
ENST00000699780.1:c.729-590T>C	ENSP00000514586.1:n.729-590T>C
ENST00000699781.1:c.*333-590T>C	ENSP00000514587.1:n.*333-590T>C
ENST00000699782.1:c.804T>C	ENSP00000514588.1:p.Asn268=
ENST00000699783.1:c.873T>C	ENSP00000514589.1:p.Asn291=
ENST00000699784.1:c.873T>C	ENSP00000514590.1:p.Asn291=
ENST00000699785.1:c.*908T>C	ENSP00000514591.1:n.*908T>C
ENST00000373719.8:c.903T>C MANE Select	ENSP00000362824.3:p.Asn301=
ENST00000373701.7:c.873T>C	ENSP00000362805.3:p.Asn291=
ENST00000373719.7:c.903T>C	ENSP00000362824.3:p.Asn301=
ENST00000459760.1:n.280T>C
ENST00000488174.5:n.4166-590T>C
NM_181672.2:c.903T>C	NP_858058.1:p.Asn301=
NM_181673.2:c.873T>C	NP_858059.1:p.Asn291=
XM_005262308.1:c.-219-590T>C	XP_005262365.1:n.-219-590T>C
XM_017029908.1:c.-219-590T>C	XP_016885397.1:n.-219-590T>C
XM_024452467.1:c.-219-590T>C	XP_024308235.1:n.-219-590T>C
NM_181672.3:c.903T>C MANE Select	NP_858058.1:p.Asn301=
NM_181673.3:c.873T>C	NP_858059.1:p.Asn291=