Canonical Allele Identifier: CA394656666

Gene: ROGDI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4802447C>A , CM000678.2:g.4802447C>A	GRCh38
NC_000016.9:g.4852448C>A , CM000678.1:g.4852448C>A	GRCh37
NC_000016.8:g.4792449C>A	NCBI36
NG_032174.1:g.5504G>T , LRG_455:g.5504G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024589.3:c.52G>T MANE Select	NP_078865.1:p.Glu18Ter
ENST00000322048.12:c.52G>T MANE Select	ENSP00000322832.6:p.Glu18Ter
NM_024589.2:c.52G>T , LRG_455t1:c.52G>T	NP_078865.1:p.Glu18Ter
NR_046480.1:n.431G>T
NR_046480.2:n.114G>T
ENST00000322048.11:c.52G>T	ENSP00000322832.5:p.Glu18Ter
ENST00000585653.1:n.184G>T
ENST00000585871.1:n.361G>T
ENST00000587377.5:c.52G>T	ENSP00000468343.1:p.Glu18Ter
ENST00000587711.5:c.52G>T	ENSP00000467459.1:p.Glu18Ter
ENST00000587843.5:c.52G>T	ENSP00000465970.1:p.Glu18Ter
ENST00000588201.5:c.52G>T	ENSP00000466529.1:p.Glu18Ter
ENST00000590198.1:n.219G>T
ENST00000591392.5:c.45+80G>T	ENSP00000467509.1:n.45+80G>T
ENST00000592112.1:n.337G>T
XM_006720947.2:c.52G>T	XP_006721010.1:p.Glu18Ter
XM_006720947.4:c.52G>T	XP_006721010.1:p.Glu18Ter
XM_006720948.2:c.-164G>T	XP_006721011.1:n.-164G>T
XM_006720948.4:c.-164G>T	XP_006721011.1:n.-164G>T