Canonical Allele Identifier: CA4243615
Gene: OGDH HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44666828C>T , CM000669.2:g.44666828C>T GRCh38
NC_000007.13:g.44706427C>T , CM000669.1:g.44706427C>T GRCh37
NC_000007.12:g.44672952C>T NCBI36
NG_023260.1:g.65307C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000447398.6:c.643C>T ENSP00000388183.1:p.Arg215Trp
ENST00000222673.6:c.610C>T MANE Select ENSP00000222673.5:p.Arg204Trp
ENST00000222673.5:c.610C>T ENSP00000222673.5:p.Arg204Trp
ENST00000419661.5:c.610C>T ENSP00000411830.1:p.Arg204Trp
ENST00000439616.6:c.315C>T ENSP00000398576.2:p.Cys105=
ENST00000443864.6:c.610C>T ENSP00000388084.2:p.Arg204Trp
ENST00000444676.5:c.655C>T ENSP00000414662.1:p.Arg219Trp
ENST00000447398.5:c.643C>T ENSP00000388183.1:p.Arg215Trp
ENST00000449767.5:c.598C>T ENSP00000392878.1:p.Arg200Trp
ENST00000459672.5:n.208C>T
ENST00000497326.1:n.34C>T
ENST00000631326.2:c.610C>T ENSP00000486854.1:p.Arg204Trp
NM_001003941.2:c.610C>T NP_001003941.1:p.Arg204Trp
NM_001165036.1:c.598C>T NP_001158508.1:p.Arg200Trp
NM_002541.3:c.610C>T NP_002532.2:p.Arg204Trp
XM_005249759.3:c.655C>T XP_005249816.1:p.Arg219Trp
XM_005249761.2:c.643C>T XP_005249818.1:p.Arg215Trp
XM_011515408.1:c.655C>T XP_011513710.1:p.Arg219Trp
NM_001363523.1:c.643C>T NP_001350452.1:p.Arg215Trp
XM_005249759.5:c.655C>T XP_005249816.1:p.Arg219Trp
XM_011515408.2:c.655C>T XP_011513710.1:p.Arg219Trp
XM_024446783.1:c.150C>T XP_024302551.1:p.Cys50=
NM_002541.4:c.610C>T MANE Select NP_002532.2:p.Arg204Trp
NM_001003941.3:c.610C>T NP_001003941.1:p.Arg204Trp
NM_001165036.2:c.598C>T NP_001158508.1:p.Arg200Trp
NM_001363523.2:c.643C>T NP_001350452.1:p.Arg215Trp