Canonical Allele Identifier: CA2575900050
Gene: ROGDI HGNC NCBI

Linked Data

gnomAD v4: 16-4797878-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4797878C>T , CM000678.2:g.4797878C>T GRCh38
NC_000016.9:g.4847879C>T , CM000678.1:g.4847879C>T GRCh37
NC_000016.8:g.4787880C>T NCBI36
NG_032174.1:g.10073G>A , LRG_455:g.10073G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.696-38G>A MANE Select ENSP00000322832.6:n.696-38G>A
ENST00000322048.11:c.696-38G>A ENSP00000322832.5:n.696-38G>A
ENST00000586153.1:c.342-42G>A ENSP00000464699.1:n.342-42G>A
ENST00000586336.5:n.795-38G>A
ENST00000586504.5:c.426-38G>A
ENST00000587377.5:c.*16-38G>A ENSP00000468343.1:n.*16-38G>A
ENST00000587711.5:c.381-38G>A ENSP00000467459.1:n.381-38G>A
ENST00000587843.5:c.*434-38G>A ENSP00000465970.1:n.*434-38G>A
ENST00000588201.5:c.*687-38G>A ENSP00000466529.1:n.*687-38G>A
ENST00000589543.5:n.653-38G>A
ENST00000591292.5:n.2025-38G>A
ENST00000591392.5:c.624-38G>A ENSP00000467509.1:n.624-38G>A
ENST00000592019.1:c.77-63G>A
NM_024589.2:c.696-38G>A , LRG_455t1:c.696-38G>A NP_078865.1:n.696-38G>A
NR_046480.1:n.1020-38G>A
XM_006720947.2:c.696-17G>A XP_006721010.1:n.696-17G>A
XM_006720948.2:c.426-17G>A XP_006721011.1:n.426-17G>A
XM_006720947.4:c.696-17G>A XP_006721010.1:n.696-17G>A
XM_006720948.4:c.426-17G>A XP_006721011.1:n.426-17G>A
NM_024589.3:c.696-38G>A MANE Select NP_078865.1:n.696-38G>A
NR_046480.2:n.703-38G>A