Canonical Allele Identifier: CA2631549960

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797849-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797849A>C , CM000678.2:g.4797849A>C	GRCh38
NC_000016.9:g.4847850A>C , CM000678.1:g.4847850A>C	GRCh37
NC_000016.8:g.4787851A>C	NCBI36
NG_032174.1:g.10102T>G , LRG_455:g.10102T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.696-9T>G MANE Select	ENSP00000322832.6:n.696-9T>G
ENST00000322048.11:c.696-9T>G	ENSP00000322832.5:n.696-9T>G
ENST00000586153.1:c.342-13T>G	ENSP00000464699.1:n.342-13T>G
ENST00000586336.5:n.795-9T>G
ENST00000586504.5:c.426-9T>G
ENST00000587377.5:c.*16-9T>G	ENSP00000468343.1:n.*16-9T>G
ENST00000587711.5:c.381-9T>G	ENSP00000467459.1:n.381-9T>G
ENST00000587843.5:c.*434-9T>G	ENSP00000465970.1:n.*434-9T>G
ENST00000588201.5:c.*687-9T>G	ENSP00000466529.1:n.*687-9T>G
ENST00000589543.5:n.653-9T>G
ENST00000591292.5:n.2025-9T>G
ENST00000591392.5:c.624-9T>G	ENSP00000467509.1:n.624-9T>G
ENST00000592019.1:c.77-34T>G
NM_024589.2:c.696-9T>G , LRG_455t1:c.696-9T>G	NP_078865.1:n.696-9T>G
NR_046480.1:n.1020-9T>G
XM_006720947.2:c.708T>G	XP_006721010.1:p.Thr236=
XM_006720948.2:c.438T>G	XP_006721011.1:p.Thr146=
XM_006720947.4:c.708T>G	XP_006721010.1:p.Thr236=
XM_006720948.4:c.438T>G	XP_006721011.1:p.Thr146=
NM_024589.3:c.696-9T>G MANE Select	NP_078865.1:n.696-9T>G
NR_046480.2:n.703-9T>G