Canonical Allele Identifier: CA394649382

Gene: ROGDI

Linked Data

• dbSNP Id: rs2082673030
• gnomAD v3: 16-4797945-C-A
• gnomAD v4: 16-4797945-C-A
• MyVariant Identifiers: chr16:g.4847946C>A (hg19) ; chr16:g.4797945C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.688G>T MANE Select	ENSP00000322832.6:p.Ala230Ser
ENST00000322048.11:c.688G>T	ENSP00000322832.5:p.Ala230Ser
ENST00000586153.1:c.334G>T	ENSP00000464699.1:p.Ala112Ser
ENST00000586336.5:n.787G>T
ENST00000586504.5:c.426-105G>T
ENST00000587377.5:c.*8G>T	ENSP00000468343.1:n.*8G>T
ENST00000587711.5:c.373G>T	ENSP00000467459.1:p.Ala125Ser
ENST00000587843.5:c.*426G>T	ENSP00000465970.1:n.*426G>T
ENST00000588201.5:c.*679G>T	ENSP00000466529.1:n.*679G>T
ENST00000589543.5:n.645G>T
ENST00000591292.5:n.2017G>T
ENST00000591392.5:c.616G>T	ENSP00000467509.1:p.Ala206Ser
ENST00000592019.1:c.77-130G>T
NM_024589.2:c.688G>T , LRG_455t1:c.688G>T	NP_078865.1:p.Ala230Ser
NR_046480.1:n.1012G>T
XM_006720947.2:c.688G>T	XP_006721010.1:p.Ala230Ser
XM_006720948.2:c.418G>T	XP_006721011.1:p.Ala140Ser
XM_006720947.4:c.688G>T	XP_006721010.1:p.Ala230Ser
XM_006720948.4:c.418G>T	XP_006721011.1:p.Ala140Ser
NM_024589.3:c.688G>T MANE Select	NP_078865.1:p.Ala230Ser
NR_046480.2:n.695G>T