Canonical Allele Identifier: CA413554304
Gene: OGT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71557599G>A , CM000685.2:g.71557599G>A GRCh38
NC_000023.10:g.70777449G>A , CM000685.1:g.70777449G>A GRCh37
NC_000023.9:g.70694174G>A NCBI36
NG_015875.1:g.29538G>A

Transcript Alleles

HGVS Amino-acid Change
NM_181672.3:c.1529G>A MANE Select NP_858058.1:p.Ser510Asn
ENST00000373719.8:c.1529G>A MANE Select ENSP00000362824.3:p.Ser510Asn
NM_181672.2:c.1529G>A NP_858058.1:p.Ser510Asn
NM_181673.2:c.1499G>A NP_858059.1:p.Ser500Asn
NM_181673.3:c.1499G>A NP_858059.1:p.Ser500Asn
ENST00000373701.7:c.1499G>A ENSP00000362805.3:p.Ser500Asn
ENST00000373719.7:c.1529G>A ENSP00000362824.3:p.Ser510Asn
ENST00000488174.5:n.4770G>A
ENST00000699749.1:c.1460G>A ENSP00000514559.1:p.Ser487Asn
ENST00000699750.1:c.*1388G>A ENSP00000514560.1:n.*1388G>A
ENST00000699751.1:n.1742G>A
ENST00000699779.1:c.*4397G>A ENSP00000514585.1:n.*4397G>A
ENST00000699780.1:c.*538G>A ENSP00000514586.1:n.*538G>A
ENST00000699781.1:c.*937G>A ENSP00000514587.1:n.*937G>A
ENST00000699782.1:c.1430G>A ENSP00000514588.1:p.Ser477Asn
ENST00000699783.1:c.1499G>A ENSP00000514589.1:p.Ser500Asn
ENST00000699784.1:c.1499G>A ENSP00000514590.1:p.Ser500Asn
ENST00000699785.1:c.*1534G>A ENSP00000514591.1:n.*1534G>A
XM_005262308.1:c.386G>A XP_005262365.1:p.Ser129Asn
XM_017029908.1:c.386G>A XP_016885397.1:p.Ser129Asn
XM_024452467.1:c.386G>A XP_024308235.1:p.Ser129Asn