Canonical Allele Identifier: CA413546092
Gene: OGT HGNC NCBI

Linked Data

ClinVar Variation Id: 428571
ClinVar RCV Id: RCV000492048
dbSNP Id: rs1114167891
MyVariant Identifiers: chrX:g.70775162G>C (hg19) chrX:g.71555312G>C (hg38)
PubMed: PMID:27479843 PMID:28584052
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71555312G>C , CM000685.2:g.71555312G>C GRCh38
NC_000023.10:g.70775162G>C , CM000685.1:g.70775162G>C GRCh37
NC_000023.9:g.70691887G>C NCBI36
NG_015875.1:g.27251G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000699749.1:c.782G>C ENSP00000514559.1:p.Arg261Pro
ENST00000699750.1:c.*710G>C ENSP00000514560.1:n.*710G>C
ENST00000699751.1:n.1278+720G>C
ENST00000699779.1:c.*3719G>C ENSP00000514585.1:n.*3719G>C
ENST00000699780.1:c.729-642G>C ENSP00000514586.1:n.729-642G>C
ENST00000699781.1:c.*333-642G>C ENSP00000514587.1:n.*333-642G>C
ENST00000699782.1:c.752G>C ENSP00000514588.1:p.Arg251Pro
ENST00000699783.1:c.821G>C ENSP00000514589.1:p.Arg274Pro
ENST00000699784.1:c.821G>C ENSP00000514590.1:p.Arg274Pro
ENST00000699785.1:c.*856G>C ENSP00000514591.1:n.*856G>C
ENST00000373719.8:c.851G>C MANE Select ENSP00000362824.3:p.Arg284Pro
ENST00000373701.7:c.821G>C ENSP00000362805.3:p.Arg274Pro
ENST00000373719.7:c.851G>C ENSP00000362824.3:p.Arg284Pro
ENST00000459760.1:n.228G>C
ENST00000488174.5:n.4166-642G>C
NM_181672.2:c.851G>C NP_858058.1:p.Arg284Pro
NM_181673.2:c.821G>C NP_858059.1:p.Arg274Pro
XM_005262308.1:c.-219-642G>C XP_005262365.1:n.-219-642G>C
XM_017029908.1:c.-219-642G>C XP_016885397.1:n.-219-642G>C
XM_024452467.1:c.-219-642G>C XP_024308235.1:n.-219-642G>C
NM_181672.3:c.851G>C MANE Select NP_858058.1:p.Arg284Pro
NM_181673.3:c.821G>C NP_858059.1:p.Arg274Pro
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