Canonical Allele Identifier: CA7882689

Gene: ROGDI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798593G>A , CM000678.2:g.4798593G>A	GRCh38
NC_000016.9:g.4848594G>A , CM000678.1:g.4848594G>A	GRCh37
NC_000016.8:g.4788595G>A	NCBI36
NG_032174.1:g.9358C>T , LRG_455:g.9358C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024589.3:c.507C>T MANE Select	NP_078865.1:p.Pro169=
ENST00000322048.12:c.507C>T MANE Select	ENSP00000322832.6:p.Pro169=
NM_024589.2:c.507C>T , LRG_455t1:c.507C>T	NP_078865.1:p.Pro169=
NR_046480.1:n.831C>T
NR_046480.2:n.514C>T
ENST00000322048.11:c.507C>T	ENSP00000322832.5:p.Pro169=
ENST00000585653.1:n.639C>T
ENST00000586153.1:c.178-409C>T	ENSP00000464699.1:n.178-409C>T
ENST00000586336.5:n.606C>T
ENST00000586504.5:c.287C>T
ENST00000587377.5:c.520C>T	ENSP00000468343.1:p.Arg174Ter
ENST00000587711.5:c.192C>T	ENSP00000467459.1:p.Pro64=
ENST00000587843.5:c.*245C>T	ENSP00000465970.1:n.*245C>T
ENST00000588201.5:c.*498C>T	ENSP00000466529.1:n.*498C>T
ENST00000589543.5:n.464C>T
ENST00000591292.5:n.1836C>T
ENST00000591392.5:c.435C>T	ENSP00000467509.1:p.Pro145=
ENST00000592019.1:c.77-778C>T
XM_006720947.2:c.507C>T	XP_006721010.1:p.Pro169=
XM_006720947.4:c.507C>T	XP_006721010.1:p.Pro169=
XM_006720948.2:c.237C>T	XP_006721011.1:p.Pro79=
XM_006720948.4:c.237C>T	XP_006721011.1:p.Pro79=