Canonical Allele Identifier: CA394648874
Gene: ROGDI HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4797796A>T , CM000678.2:g.4797796A>T GRCh38
NC_000016.9:g.4847797A>T , CM000678.1:g.4847797A>T GRCh37
NC_000016.8:g.4787798A>T NCBI36
NG_032174.1:g.10155T>A , LRG_455:g.10155T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.740T>A MANE Select ENSP00000322832.6:p.Val247Glu
ENST00000322048.11:c.740T>A ENSP00000322832.5:p.Val247Glu
ENST00000586153.1:c.382T>A ENSP00000464699.1:n.382T>A
ENST00000586336.5:n.839T>A
ENST00000586504.5:c.470T>A
ENST00000587377.5:c.*60T>A ENSP00000468343.1:n.*60T>A
ENST00000587711.5:c.425T>A ENSP00000467459.1:p.Val142Glu
ENST00000587843.5:c.*478T>A ENSP00000465970.1:n.*478T>A
ENST00000588201.5:c.*731T>A ENSP00000466529.1:n.*731T>A
ENST00000589543.5:n.697T>A
ENST00000591292.5:n.2069T>A
ENST00000591392.5:c.668T>A ENSP00000467509.1:p.Val223Glu
ENST00000592019.1:c.96T>A
NM_024589.2:c.740T>A , LRG_455t1:c.740T>A NP_078865.1:p.Val247Glu
NR_046480.1:n.1064T>A
XM_006720947.2:c.761T>A XP_006721010.1:p.Val254Glu
XM_006720948.2:c.491T>A XP_006721011.1:p.Val164Glu
XM_006720947.4:c.761T>A XP_006721010.1:p.Val254Glu
XM_006720948.4:c.491T>A XP_006721011.1:p.Val164Glu
NM_024589.3:c.740T>A MANE Select NP_078865.1:p.Val247Glu
NR_046480.2:n.747T>A