Canonical Allele Identifier: CA7882505
Gene: ROGDI HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4797806C>T , CM000678.2:g.4797806C>T GRCh38
NC_000016.9:g.4847807C>T , CM000678.1:g.4847807C>T GRCh37
NC_000016.8:g.4787808C>T NCBI36
NG_032174.1:g.10145G>A , LRG_455:g.10145G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.730G>A MANE Select ENSP00000322832.6:p.Val244Met
ENST00000322048.11:c.730G>A ENSP00000322832.5:p.Val244Met
ENST00000586153.1:c.372G>A ENSP00000464699.1:n.372G>A
ENST00000586336.5:n.829G>A
ENST00000586504.5:c.460G>A
ENST00000587377.5:c.*50G>A ENSP00000468343.1:n.*50G>A
ENST00000587711.5:c.415G>A ENSP00000467459.1:p.Val139Met
ENST00000587843.5:c.*468G>A ENSP00000465970.1:n.*468G>A
ENST00000588201.5:c.*721G>A ENSP00000466529.1:n.*721G>A
ENST00000589543.5:n.687G>A
ENST00000591292.5:n.2059G>A
ENST00000591392.5:c.658G>A ENSP00000467509.1:p.Val220Met
ENST00000592019.1:c.86G>A
NM_024589.2:c.730G>A , LRG_455t1:c.730G>A NP_078865.1:p.Val244Met
NR_046480.1:n.1054G>A
XM_006720947.2:c.751G>A XP_006721010.1:p.Val251Met
XM_006720948.2:c.481G>A XP_006721011.1:p.Val161Met
XM_006720947.4:c.751G>A XP_006721010.1:p.Val251Met
XM_006720948.4:c.481G>A XP_006721011.1:p.Val161Met
NM_024589.3:c.730G>A MANE Select NP_078865.1:p.Val244Met
NR_046480.2:n.737G>A