Canonical Allele Identifier: CA7882478

Gene: ROGDI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797741C>T , CM000678.2:g.4797741C>T	GRCh38
NC_000016.9:g.4847742C>T , CM000678.1:g.4847742C>T	GRCh37
NC_000016.8:g.4787743C>T	NCBI36
NG_032174.1:g.10210G>A , LRG_455:g.10210G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024589.3:c.795G>A MANE Select	NP_078865.1:p.Leu265=
ENST00000322048.12:c.795G>A MANE Select	ENSP00000322832.6:p.Leu265=
NM_024589.2:c.795G>A , LRG_455t1:c.795G>A	NP_078865.1:p.Leu265=
NR_046480.1:n.1119G>A
NR_046480.2:n.802G>A
ENST00000322048.11:c.795G>A	ENSP00000322832.5:p.Leu265=
ENST00000586153.1:c.437G>A	ENSP00000464699.1:n.437G>A
ENST00000586504.5:c.525G>A
ENST00000587377.5:c.*115G>A	ENSP00000468343.1:n.*115G>A
ENST00000587711.5:c.480G>A	ENSP00000467459.1:p.Leu160=
ENST00000587843.5:c.*533G>A	ENSP00000465970.1:n.*533G>A
ENST00000588201.5:c.*786G>A	ENSP00000466529.1:n.*786G>A
ENST00000591292.5:n.2124G>A
ENST00000591392.5:c.723G>A	ENSP00000467509.1:p.Leu241=
ENST00000592019.1:c.151G>A
XM_006720947.2:c.816G>A	XP_006721010.1:p.Leu272=
XM_006720947.4:c.816G>A	XP_006721010.1:p.Leu272=
XM_006720948.2:c.546G>A	XP_006721011.1:p.Leu182=
XM_006720948.4:c.546G>A	XP_006721011.1:p.Leu182=