Canonical Allele Identifier: CA2631550020
Gene: ROGDI HGNC NCBI

Linked Data

gnomAD v4: 16-4797906-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4797906C>T , CM000678.2:g.4797906C>T GRCh38
NC_000016.9:g.4847907C>T , CM000678.1:g.4847907C>T GRCh37
NC_000016.8:g.4787908C>T NCBI36
NG_032174.1:g.10045G>A , LRG_455:g.10045G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.695+32G>A MANE Select ENSP00000322832.6:n.695+32G>A
ENST00000322048.11:c.695+32G>A ENSP00000322832.5:n.695+32G>A
ENST00000586153.1:c.341+32G>A ENSP00000464699.1:n.341+32G>A
ENST00000586336.5:n.794+32G>A
ENST00000586504.5:c.426-66G>A
ENST00000587377.5:c.*15+32G>A ENSP00000468343.1:n.*15+32G>A
ENST00000587711.5:c.380+32G>A ENSP00000467459.1:n.380+32G>A
ENST00000587843.5:c.*433+32G>A ENSP00000465970.1:n.*433+32G>A
ENST00000588201.5:c.*686+32G>A ENSP00000466529.1:n.*686+32G>A
ENST00000589543.5:n.652+32G>A
ENST00000591292.5:n.2024+32G>A
ENST00000591392.5:c.623+32G>A ENSP00000467509.1:n.623+32G>A
ENST00000592019.1:c.77-91G>A
NM_024589.2:c.695+32G>A , LRG_455t1:c.695+32G>A NP_078865.1:n.695+32G>A
NR_046480.1:n.1019+32G>A
XM_006720947.2:c.695+32G>A XP_006721010.1:n.695+32G>A
XM_006720948.2:c.425+32G>A XP_006721011.1:n.425+32G>A
XM_006720947.4:c.695+32G>A XP_006721010.1:n.695+32G>A
XM_006720948.4:c.425+32G>A XP_006721011.1:n.425+32G>A
NM_024589.3:c.695+32G>A MANE Select NP_078865.1:n.695+32G>A
NR_046480.2:n.702+32G>A