Canonical Allele Identifier: CA394653330

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849726G>T (hg19) ; chr16:g.4799725G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799725G>T , CM000678.2:g.4799725G>T	GRCh38
NC_000016.9:g.4849726G>T , CM000678.1:g.4849726G>T	GRCh37
NC_000016.8:g.4789727G>T	NCBI36
NG_032174.1:g.8226C>A , LRG_455:g.8226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.393C>A MANE Select	ENSP00000322832.6:p.Asp131Glu
ENST00000322048.11:c.393C>A	ENSP00000322832.5:p.Asp131Glu
ENST00000585653.1:n.525C>A
ENST00000586153.1:c.138C>A	ENSP00000464699.1:p.Asp46Glu
ENST00000586336.5:n.492C>A
ENST00000586504.5:c.173C>A
ENST00000587377.5:c.393C>A	ENSP00000468343.1:p.Asp131Glu
ENST00000587711.5:c.118-1058C>A	ENSP00000467459.1:n.118-1058C>A
ENST00000587843.5:c.*131C>A	ENSP00000465970.1:n.*131C>A
ENST00000588201.5:c.*250C>A	ENSP00000466529.1:n.*250C>A
ENST00000589543.5:n.350C>A
ENST00000591292.5:n.1722C>A
ENST00000591392.5:c.321C>A	ENSP00000467509.1:p.Asp107Glu
ENST00000592019.1:c.76+36C>A
NM_024589.2:c.393C>A , LRG_455t1:c.393C>A	NP_078865.1:p.Asp131Glu
NR_046480.1:n.717C>A
XM_006720947.2:c.393C>A	XP_006721010.1:p.Asp131Glu
XM_006720948.2:c.123C>A	XP_006721011.1:p.Asp41Glu
XM_006720947.4:c.393C>A	XP_006721010.1:p.Asp131Glu
XM_006720948.4:c.123C>A	XP_006721011.1:p.Asp41Glu
NM_024589.3:c.393C>A MANE Select	NP_078865.1:p.Asp131Glu
NR_046480.2:n.400C>A