Canonical Allele Identifier: CA7882502

Gene: ROGDI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797783G>A , CM000678.2:g.4797783G>A	GRCh38
NC_000016.9:g.4847784G>A , CM000678.1:g.4847784G>A	GRCh37
NC_000016.8:g.4787785G>A	NCBI36
NG_032174.1:g.10168C>T , LRG_455:g.10168C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024589.3:c.753C>T MANE Select	NP_078865.1:p.Ile251=
ENST00000322048.12:c.753C>T MANE Select	ENSP00000322832.6:p.Ile251=
NM_024589.2:c.753C>T , LRG_455t1:c.753C>T	NP_078865.1:p.Ile251=
NR_046480.1:n.1077C>T
NR_046480.2:n.760C>T
ENST00000322048.11:c.753C>T	ENSP00000322832.5:p.Ile251=
ENST00000586153.1:c.395C>T	ENSP00000464699.1:n.395C>T
ENST00000586336.5:n.852C>T
ENST00000586504.5:c.483C>T
ENST00000587377.5:c.*73C>T	ENSP00000468343.1:n.*73C>T
ENST00000587711.5:c.438C>T	ENSP00000467459.1:p.Ile146=
ENST00000587843.5:c.*491C>T	ENSP00000465970.1:n.*491C>T
ENST00000588201.5:c.*744C>T	ENSP00000466529.1:n.*744C>T
ENST00000589543.5:n.710C>T
ENST00000591292.5:n.2082C>T
ENST00000591392.5:c.681C>T	ENSP00000467509.1:p.Ile227=
ENST00000592019.1:c.109C>T
XM_006720947.2:c.774C>T	XP_006721010.1:p.Ile258=
XM_006720947.4:c.774C>T	XP_006721010.1:p.Ile258=
XM_006720948.2:c.504C>T	XP_006721011.1:p.Ile168=
XM_006720948.4:c.504C>T	XP_006721011.1:p.Ile168=