Canonical Allele Identifier: CA2631550000
Gene: ROGDI HGNC NCBI

Linked Data

gnomAD v4: 16-4797873-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4797873C>A , CM000678.2:g.4797873C>A GRCh38
NC_000016.9:g.4847874C>A , CM000678.1:g.4847874C>A GRCh37
NC_000016.8:g.4787875C>A NCBI36
NG_032174.1:g.10078G>T , LRG_455:g.10078G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.696-33G>T MANE Select ENSP00000322832.6:n.696-33G>T
ENST00000322048.11:c.696-33G>T ENSP00000322832.5:n.696-33G>T
ENST00000586153.1:c.342-37G>T ENSP00000464699.1:n.342-37G>T
ENST00000586336.5:n.795-33G>T
ENST00000586504.5:c.426-33G>T
ENST00000587377.5:c.*16-33G>T ENSP00000468343.1:n.*16-33G>T
ENST00000587711.5:c.381-33G>T ENSP00000467459.1:n.381-33G>T
ENST00000587843.5:c.*434-33G>T ENSP00000465970.1:n.*434-33G>T
ENST00000588201.5:c.*687-33G>T ENSP00000466529.1:n.*687-33G>T
ENST00000589543.5:n.653-33G>T
ENST00000591292.5:n.2025-33G>T
ENST00000591392.5:c.624-33G>T ENSP00000467509.1:n.624-33G>T
ENST00000592019.1:c.77-58G>T
NM_024589.2:c.696-33G>T , LRG_455t1:c.696-33G>T NP_078865.1:n.696-33G>T
NR_046480.1:n.1020-33G>T
XM_006720947.2:c.696-12G>T XP_006721010.1:n.696-12G>T
XM_006720948.2:c.426-12G>T XP_006721011.1:n.426-12G>T
XM_006720947.4:c.696-12G>T XP_006721010.1:n.696-12G>T
XM_006720948.4:c.426-12G>T XP_006721011.1:n.426-12G>T
NM_024589.3:c.696-33G>T MANE Select NP_078865.1:n.696-33G>T
NR_046480.2:n.703-33G>T