Canonical Allele Identifier: CA2631550004
Gene: ROGDI HGNC NCBI

Linked Data

gnomAD v4: 16-4797877-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4797877G>A , CM000678.2:g.4797877G>A GRCh38
NC_000016.9:g.4847878G>A , CM000678.1:g.4847878G>A GRCh37
NC_000016.8:g.4787879G>A NCBI36
NG_032174.1:g.10074C>T , LRG_455:g.10074C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.696-37C>T MANE Select ENSP00000322832.6:n.696-37C>T
ENST00000322048.11:c.696-37C>T ENSP00000322832.5:n.696-37C>T
ENST00000586153.1:c.342-41C>T ENSP00000464699.1:n.342-41C>T
ENST00000586336.5:n.795-37C>T
ENST00000586504.5:c.426-37C>T
ENST00000587377.5:c.*16-37C>T ENSP00000468343.1:n.*16-37C>T
ENST00000587711.5:c.381-37C>T ENSP00000467459.1:n.381-37C>T
ENST00000587843.5:c.*434-37C>T ENSP00000465970.1:n.*434-37C>T
ENST00000588201.5:c.*687-37C>T ENSP00000466529.1:n.*687-37C>T
ENST00000589543.5:n.653-37C>T
ENST00000591292.5:n.2025-37C>T
ENST00000591392.5:c.624-37C>T ENSP00000467509.1:n.624-37C>T
ENST00000592019.1:c.77-62C>T
NM_024589.2:c.696-37C>T , LRG_455t1:c.696-37C>T NP_078865.1:n.696-37C>T
NR_046480.1:n.1020-37C>T
XM_006720947.2:c.696-16C>T XP_006721010.1:n.696-16C>T
XM_006720948.2:c.426-16C>T XP_006721011.1:n.426-16C>T
XM_006720947.4:c.696-16C>T XP_006721010.1:n.696-16C>T
XM_006720948.4:c.426-16C>T XP_006721011.1:n.426-16C>T
NM_024589.3:c.696-37C>T MANE Select NP_078865.1:n.696-37C>T
NR_046480.2:n.703-37C>T