Canonical Allele Identifier: CA493404719

Gene: ROGDI

Linked Data

• dbSNP Id: rs750000066
• MyVariant Identifiers: chr16:g.4847968G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797967G>T , CM000678.2:g.4797967G>T	GRCh38
NC_000016.9:g.4847968G>T , CM000678.1:g.4847968G>T	GRCh37
NC_000016.8:g.4787969G>T	NCBI36
NG_032174.1:g.9984C>A , LRG_455:g.9984C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.666C>A MANE Select	ENSP00000322832.6:p.Gly222=
ENST00000322048.11:c.666C>A	ENSP00000322832.5:p.Gly222=
ENST00000586153.1:c.312C>A	ENSP00000464699.1:p.Gly104=
ENST00000586336.5:n.765C>A
ENST00000586504.5:c.425+104C>A
ENST00000587377.5:c.679C>A	ENSP00000468343.1:p.Arg227Ser
ENST00000587711.5:c.351C>A	ENSP00000467459.1:p.Gly117=
ENST00000587843.5:c.*404C>A	ENSP00000465970.1:n.*404C>A
ENST00000588201.5:c.*657C>A	ENSP00000466529.1:n.*657C>A
ENST00000589543.5:n.623C>A
ENST00000591292.5:n.1995C>A
ENST00000591392.5:c.594C>A	ENSP00000467509.1:p.Gly198=
ENST00000592019.1:c.77-152C>A
NM_024589.2:c.666C>A , LRG_455t1:c.666C>A	NP_078865.1:p.Gly222=
NR_046480.1:n.990C>A
XM_006720947.2:c.666C>A	XP_006721010.1:p.Gly222=
XM_006720948.2:c.396C>A	XP_006721011.1:p.Gly132=
XM_006720947.4:c.666C>A	XP_006721010.1:p.Gly222=
XM_006720948.4:c.396C>A	XP_006721011.1:p.Gly132=
NM_024589.3:c.666C>A MANE Select	NP_078865.1:p.Gly222=
NR_046480.2:n.673C>A