Canonical Allele Identifier: CA7882510

Gene: ROGDI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797823C>T , CM000678.2:g.4797823C>T	GRCh38
NC_000016.9:g.4847824C>T , CM000678.1:g.4847824C>T	GRCh37
NC_000016.8:g.4787825C>T	NCBI36
NG_032174.1:g.10128G>A , LRG_455:g.10128G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024589.3:c.713G>A MANE Select	NP_078865.1:p.Arg238His
ENST00000322048.12:c.713G>A MANE Select	ENSP00000322832.6:p.Arg238His
NM_024589.2:c.713G>A , LRG_455t1:c.713G>A	NP_078865.1:p.Arg238His
NR_046480.1:n.1037G>A
NR_046480.2:n.720G>A
ENST00000322048.11:c.713G>A	ENSP00000322832.5:p.Arg238His
ENST00000586153.1:c.355G>A	ENSP00000464699.1:p.Ala119Thr
ENST00000586336.5:n.812G>A
ENST00000586504.5:c.443G>A
ENST00000587377.5:c.*33G>A	ENSP00000468343.1:n.*33G>A
ENST00000587711.5:c.398G>A	ENSP00000467459.1:p.Arg133His
ENST00000587843.5:c.*451G>A	ENSP00000465970.1:n.*451G>A
ENST00000588201.5:c.*704G>A	ENSP00000466529.1:n.*704G>A
ENST00000589543.5:n.670G>A
ENST00000591292.5:n.2042G>A
ENST00000591392.5:c.641G>A	ENSP00000467509.1:p.Arg214His
ENST00000592019.1:c.77-8G>A
XM_006720947.2:c.734G>A	XP_006721010.1:p.Arg245His
XM_006720947.4:c.734G>A	XP_006721010.1:p.Arg245His
XM_006720948.2:c.464G>A	XP_006721011.1:p.Arg155His
XM_006720948.4:c.464G>A	XP_006721011.1:p.Arg155His