Canonical Allele Identifier: CA2575900058
Gene: ROGDI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4798003C>G , CM000678.2:g.4798003C>G GRCh38
NC_000016.9:g.4848004C>G , CM000678.1:g.4848004C>G GRCh37
NC_000016.8:g.4788005C>G NCBI36
NG_032174.1:g.9948G>C , LRG_455:g.9948G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.646-16G>C MANE Select ENSP00000322832.6:n.646-16G>C
ENST00000322048.11:c.646-16G>C ENSP00000322832.5:n.646-16G>C
ENST00000586153.1:c.292-16G>C ENSP00000464699.1:n.292-16G>C
ENST00000586336.5:n.745-16G>C
ENST00000586504.5:c.425+68G>C
ENST00000587377.5:c.659-16G>C ENSP00000468343.1:n.659-16G>C
ENST00000587711.5:c.331-16G>C ENSP00000467459.1:n.331-16G>C
ENST00000587843.5:c.*384-16G>C ENSP00000465970.1:n.*384-16G>C
ENST00000588201.5:c.*637-16G>C ENSP00000466529.1:n.*637-16G>C
ENST00000589543.5:n.603-16G>C
ENST00000591292.5:n.1975-16G>C
ENST00000591392.5:c.574-16G>C ENSP00000467509.1:n.574-16G>C
ENST00000592019.1:c.77-188G>C
NM_024589.2:c.646-16G>C , LRG_455t1:c.646-16G>C NP_078865.1:n.646-16G>C
NR_046480.1:n.970-16G>C
XM_006720947.2:c.646-16G>C XP_006721010.1:n.646-16G>C
XM_006720948.2:c.376-16G>C XP_006721011.1:n.376-16G>C
XM_006720947.4:c.646-16G>C XP_006721010.1:n.646-16G>C
XM_006720948.4:c.376-16G>C XP_006721011.1:n.376-16G>C
NM_024589.3:c.646-16G>C MANE Select NP_078865.1:n.646-16G>C
NR_046480.2:n.653-16G>C