Canonical Allele Identifier: CA2805667747
Gene: ROGDI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4799642G>A , CM000678.2:g.4799642G>A GRCh38
NC_000016.9:g.4849643G>A , CM000678.1:g.4849643G>A GRCh37
NC_000016.8:g.4789644G>A NCBI36
NG_032174.1:g.8309C>T , LRG_455:g.8309C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.432+44C>T MANE Select ENSP00000322832.6:n.432+44C>T
ENST00000322048.11:c.432+44C>T ENSP00000322832.5:n.432+44C>T
ENST00000585653.1:n.564+44C>T
ENST00000586153.1:c.177+44C>T ENSP00000464699.1:n.177+44C>T
ENST00000586336.5:n.531+44C>T
ENST00000586504.5:c.212+44C>T
ENST00000587377.5:c.423+53C>T ENSP00000468343.1:n.423+53C>T
ENST00000587711.5:c.118-975C>T ENSP00000467459.1:n.118-975C>T
ENST00000587843.5:c.*170+44C>T ENSP00000465970.1:n.*170+44C>T
ENST00000588201.5:c.*289+44C>T ENSP00000466529.1:n.*289+44C>T
ENST00000589543.5:n.389+44C>T
ENST00000591292.5:n.1761+44C>T
ENST00000591392.5:c.360+44C>T ENSP00000467509.1:n.360+44C>T
ENST00000592019.1:c.76+119C>T
NM_024589.2:c.432+44C>T , LRG_455t1:c.432+44C>T NP_078865.1:n.432+44C>T
NR_046480.1:n.756+44C>T
XM_006720947.2:c.432+44C>T XP_006721010.1:n.432+44C>T
XM_006720948.2:c.162+44C>T XP_006721011.1:n.162+44C>T
XM_006720947.4:c.432+44C>T XP_006721010.1:n.432+44C>T
XM_006720948.4:c.162+44C>T XP_006721011.1:n.162+44C>T
NM_024589.3:c.432+44C>T MANE Select NP_078865.1:n.432+44C>T
NR_046480.2:n.439+44C>T