Canonical Allele Identifier: CA394649666

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847982G>T (hg19) ; chr16:g.4797981G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797981G>T , CM000678.2:g.4797981G>T	GRCh38
NC_000016.9:g.4847982G>T , CM000678.1:g.4847982G>T	GRCh37
NC_000016.8:g.4787983G>T	NCBI36
NG_032174.1:g.9970C>A , LRG_455:g.9970C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.652C>A MANE Select	ENSP00000322832.6:p.Arg218Ser
ENST00000322048.11:c.652C>A	ENSP00000322832.5:p.Arg218Ser
ENST00000586153.1:c.298C>A	ENSP00000464699.1:p.Arg100Ser
ENST00000586336.5:n.751C>A
ENST00000586504.5:c.425+90C>A
ENST00000587377.5:c.665C>A	ENSP00000468343.1:p.Pro222Gln
ENST00000587711.5:c.337C>A	ENSP00000467459.1:p.Arg113Ser
ENST00000587843.5:c.*390C>A	ENSP00000465970.1:n.*390C>A
ENST00000588201.5:c.*643C>A	ENSP00000466529.1:n.*643C>A
ENST00000589543.5:n.609C>A
ENST00000591292.5:n.1981C>A
ENST00000591392.5:c.580C>A	ENSP00000467509.1:p.Arg194Ser
ENST00000592019.1:c.77-166C>A
NM_024589.2:c.652C>A , LRG_455t1:c.652C>A	NP_078865.1:p.Arg218Ser
NR_046480.1:n.976C>A
XM_006720947.2:c.652C>A	XP_006721010.1:p.Arg218Ser
XM_006720948.2:c.382C>A	XP_006721011.1:p.Arg128Ser
XM_006720947.4:c.652C>A	XP_006721010.1:p.Arg218Ser
XM_006720948.4:c.382C>A	XP_006721011.1:p.Arg128Ser
NM_024589.3:c.652C>A MANE Select	NP_078865.1:p.Arg218Ser
NR_046480.2:n.659C>A