Canonical Allele Identifier: CA7882803

Gene: ROGDI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4800533C>T , CM000678.2:g.4800533C>T	GRCh38
NC_000016.9:g.4850534C>T , CM000678.1:g.4850534C>T	GRCh37
NC_000016.8:g.4790535C>T	NCBI36
NG_032174.1:g.7418G>A , LRG_455:g.7418G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024589.3:c.301G>A MANE Select	NP_078865.1:p.Ala101Thr
ENST00000322048.12:c.301G>A MANE Select	ENSP00000322832.6:p.Ala101Thr
NM_024589.2:c.301G>A , LRG_455t1:c.301G>A	NP_078865.1:p.Ala101Thr
NR_046480.1:n.625G>A
NR_046480.2:n.308G>A
ENST00000322048.11:c.301G>A	ENSP00000322832.5:p.Ala101Thr
ENST00000585653.1:n.433G>A
ENST00000586153.1:c.46G>A	ENSP00000464699.1:p.Ala16Thr
ENST00000586336.5:n.400G>A
ENST00000586504.5:c.81G>A
ENST00000587377.5:c.301G>A	ENSP00000468343.1:p.Ala101Thr
ENST00000587711.5:c.117+1849G>A	ENSP00000467459.1:n.117+1849G>A
ENST00000587843.5:c.*39G>A	ENSP00000465970.1:n.*39G>A
ENST00000588201.5:c.*158G>A	ENSP00000466529.1:n.*158G>A
ENST00000589543.5:n.258G>A
ENST00000591292.5:n.1630G>A
ENST00000591392.5:c.229G>A	ENSP00000467509.1:p.Ala77Thr
ENST00000592019.1:c.20G>A
XM_006720947.2:c.301G>A	XP_006721010.1:p.Ala101Thr
XM_006720947.4:c.301G>A	XP_006721010.1:p.Ala101Thr
XM_006720948.2:c.31G>A	XP_006721011.1:p.Ala11Thr
XM_006720948.4:c.31G>A	XP_006721011.1:p.Ala11Thr