Canonical Allele Identifier: CA394649583

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797972-C-A
• MyVariant Identifiers: chr16:g.4847973C>A (hg19) ; chr16:g.4797972C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.661G>T MANE Select	ENSP00000322832.6:p.Gly221Trp
ENST00000322048.11:c.661G>T	ENSP00000322832.5:p.Gly221Trp
ENST00000586153.1:c.307G>T	ENSP00000464699.1:p.Gly103Trp
ENST00000586336.5:n.760G>T
ENST00000586504.5:c.425+99G>T
ENST00000587377.5:c.674G>T	ENSP00000468343.1:p.Trp225Leu
ENST00000587711.5:c.346G>T	ENSP00000467459.1:p.Gly116Trp
ENST00000587843.5:c.*399G>T	ENSP00000465970.1:n.*399G>T
ENST00000588201.5:c.*652G>T	ENSP00000466529.1:n.*652G>T
ENST00000589543.5:n.618G>T
ENST00000591292.5:n.1990G>T
ENST00000591392.5:c.589G>T	ENSP00000467509.1:p.Gly197Trp
ENST00000592019.1:c.77-157G>T
NM_024589.2:c.661G>T , LRG_455t1:c.661G>T	NP_078865.1:p.Gly221Trp
NR_046480.1:n.985G>T
XM_006720947.2:c.661G>T	XP_006721010.1:p.Gly221Trp
XM_006720948.2:c.391G>T	XP_006721011.1:p.Gly131Trp
XM_006720947.4:c.661G>T	XP_006721010.1:p.Gly221Trp
XM_006720948.4:c.391G>T	XP_006721011.1:p.Gly131Trp
NM_024589.3:c.661G>T MANE Select	NP_078865.1:p.Gly221Trp
NR_046480.2:n.668G>T