Canonical Allele Identifier: CA2575900060
Gene: ROGDI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4798044G>A , CM000678.2:g.4798044G>A GRCh38
NC_000016.9:g.4848045G>A , CM000678.1:g.4848045G>A GRCh37
NC_000016.8:g.4788046G>A NCBI36
NG_032174.1:g.9907C>T , LRG_455:g.9907C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.645+27C>T MANE Select ENSP00000322832.6:n.645+27C>T
ENST00000322048.11:c.645+27C>T ENSP00000322832.5:n.645+27C>T
ENST00000586153.1:c.291+27C>T ENSP00000464699.1:n.291+27C>T
ENST00000586336.5:n.744+27C>T
ENST00000586504.5:c.425+27C>T
ENST00000587377.5:c.658+27C>T ENSP00000468343.1:n.658+27C>T
ENST00000587711.5:c.330+27C>T ENSP00000467459.1:n.330+27C>T
ENST00000587843.5:c.*383+27C>T ENSP00000465970.1:n.*383+27C>T
ENST00000588201.5:c.*636+27C>T ENSP00000466529.1:n.*636+27C>T
ENST00000589543.5:n.602+27C>T
ENST00000591292.5:n.1974+27C>T
ENST00000591392.5:c.573+27C>T ENSP00000467509.1:n.573+27C>T
ENST00000592019.1:c.77-229C>T
NM_024589.2:c.645+27C>T , LRG_455t1:c.645+27C>T NP_078865.1:n.645+27C>T
NR_046480.1:n.969+27C>T
XM_006720947.2:c.645+27C>T XP_006721010.1:n.645+27C>T
XM_006720948.2:c.375+27C>T XP_006721011.1:n.375+27C>T
XM_006720947.4:c.645+27C>T XP_006721010.1:n.645+27C>T
XM_006720948.4:c.375+27C>T XP_006721011.1:n.375+27C>T
NM_024589.3:c.645+27C>T MANE Select NP_078865.1:n.645+27C>T
NR_046480.2:n.652+27C>T