Canonical Allele Identifier: CA394649389

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797945-C-T
• MyVariant Identifiers: chr16:g.4847946C>T (hg19) ; chr16:g.4797945C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797945C>T , CM000678.2:g.4797945C>T	GRCh38
NC_000016.9:g.4847946C>T , CM000678.1:g.4847946C>T	GRCh37
NC_000016.8:g.4787947C>T	NCBI36
NG_032174.1:g.10006G>A , LRG_455:g.10006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.688G>A MANE Select	ENSP00000322832.6:p.Ala230Thr
ENST00000322048.11:c.688G>A	ENSP00000322832.5:p.Ala230Thr
ENST00000586153.1:c.334G>A	ENSP00000464699.1:p.Ala112Thr
ENST00000586336.5:n.787G>A
ENST00000586504.5:c.426-105G>A
ENST00000587377.5:c.*8G>A	ENSP00000468343.1:n.*8G>A
ENST00000587711.5:c.373G>A	ENSP00000467459.1:p.Ala125Thr
ENST00000587843.5:c.*426G>A	ENSP00000465970.1:n.*426G>A
ENST00000588201.5:c.*679G>A	ENSP00000466529.1:n.*679G>A
ENST00000589543.5:n.645G>A
ENST00000591292.5:n.2017G>A
ENST00000591392.5:c.616G>A	ENSP00000467509.1:p.Ala206Thr
ENST00000592019.1:c.77-130G>A
NM_024589.2:c.688G>A , LRG_455t1:c.688G>A	NP_078865.1:p.Ala230Thr
NR_046480.1:n.1012G>A
XM_006720947.2:c.688G>A	XP_006721010.1:p.Ala230Thr
XM_006720948.2:c.418G>A	XP_006721011.1:p.Ala140Thr
XM_006720947.4:c.688G>A	XP_006721010.1:p.Ala230Thr
XM_006720948.4:c.418G>A	XP_006721011.1:p.Ala140Thr
NM_024589.3:c.688G>A MANE Select	NP_078865.1:p.Ala230Thr
NR_046480.2:n.695G>A