Canonical Allele Identifier: CA394649557

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 1523962
• ClinVar RCV Id: RCV002049030
• dbSNP Id: rs1317312771
• gnomAD v3: 16-4797968-C-T
• gnomAD v4: 16-4797968-C-T
• MyVariant Identifiers: chr16:g.4847969C>T (hg19) ; chr16:g.4797968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797968C>T , CM000678.2:g.4797968C>T	GRCh38
NC_000016.9:g.4847969C>T , CM000678.1:g.4847969C>T	GRCh37
NC_000016.8:g.4787970C>T	NCBI36
NG_032174.1:g.9983G>A , LRG_455:g.9983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.665G>A MANE Select	ENSP00000322832.6:p.Gly222Asp
ENST00000322048.11:c.665G>A	ENSP00000322832.5:p.Gly222Asp
ENST00000586153.1:c.311G>A	ENSP00000464699.1:p.Gly104Asp
ENST00000586336.5:n.764G>A
ENST00000586504.5:c.425+103G>A
ENST00000587377.5:c.678G>A	ENSP00000468343.1:p.Gly226=
ENST00000587711.5:c.350G>A	ENSP00000467459.1:p.Gly117Asp
ENST00000587843.5:c.*403G>A	ENSP00000465970.1:n.*403G>A
ENST00000588201.5:c.*656G>A	ENSP00000466529.1:n.*656G>A
ENST00000589543.5:n.622G>A
ENST00000591292.5:n.1994G>A
ENST00000591392.5:c.593G>A	ENSP00000467509.1:p.Gly198Asp
ENST00000592019.1:c.77-153G>A
NM_024589.2:c.665G>A , LRG_455t1:c.665G>A	NP_078865.1:p.Gly222Asp
NR_046480.1:n.989G>A
XM_006720947.2:c.665G>A	XP_006721010.1:p.Gly222Asp
XM_006720948.2:c.395G>A	XP_006721011.1:p.Gly132Asp
XM_006720947.4:c.665G>A	XP_006721010.1:p.Gly222Asp
XM_006720948.4:c.395G>A	XP_006721011.1:p.Gly132Asp
NM_024589.3:c.665G>A MANE Select	NP_078865.1:p.Gly222Asp
NR_046480.2:n.672G>A