Canonical Allele Identifier: CA394649596

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 530794
• ClinVar RCV Id: RCV000636831
• dbSNP Id: rs757872277
• gnomAD v4: 16-4797972-C-T
• MyVariant Identifiers: chr16:g.4847973C>T (hg19) ; chr16:g.4797972C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797972C>T , CM000678.2:g.4797972C>T	GRCh38
NC_000016.9:g.4847973C>T , CM000678.1:g.4847973C>T	GRCh37
NC_000016.8:g.4787974C>T	NCBI36
NG_032174.1:g.9979G>A , LRG_455:g.9979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.661G>A MANE Select	ENSP00000322832.6:p.Gly221Arg
ENST00000322048.11:c.661G>A	ENSP00000322832.5:p.Gly221Arg
ENST00000586153.1:c.307G>A	ENSP00000464699.1:p.Gly103Arg
ENST00000586336.5:n.760G>A
ENST00000586504.5:c.425+99G>A
ENST00000587377.5:c.674G>A	ENSP00000468343.1:p.Trp225Ter
ENST00000587711.5:c.346G>A	ENSP00000467459.1:p.Gly116Arg
ENST00000587843.5:c.*399G>A	ENSP00000465970.1:n.*399G>A
ENST00000588201.5:c.*652G>A	ENSP00000466529.1:n.*652G>A
ENST00000589543.5:n.618G>A
ENST00000591292.5:n.1990G>A
ENST00000591392.5:c.589G>A	ENSP00000467509.1:p.Gly197Arg
ENST00000592019.1:c.77-157G>A
NM_024589.2:c.661G>A , LRG_455t1:c.661G>A	NP_078865.1:p.Gly221Arg
NR_046480.1:n.985G>A
XM_006720947.2:c.661G>A	XP_006721010.1:p.Gly221Arg
XM_006720948.2:c.391G>A	XP_006721011.1:p.Gly131Arg
XM_006720947.4:c.661G>A	XP_006721010.1:p.Gly221Arg
XM_006720948.4:c.391G>A	XP_006721011.1:p.Gly131Arg
NM_024589.3:c.661G>A MANE Select	NP_078865.1:p.Gly221Arg
NR_046480.2:n.668G>A