Canonical Allele Identifier: CA394654874

Gene: ROGDI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4801272G>A , CM000678.2:g.4801272G>A	GRCh38
NC_000016.9:g.4851273G>A , CM000678.1:g.4851273G>A	GRCh37
NC_000016.8:g.4791274G>A	NCBI36
NG_032174.1:g.6679C>T , LRG_455:g.6679C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024589.3:c.250C>T MANE Select	NP_078865.1:p.Gln84Ter
ENST00000322048.12:c.250C>T MANE Select	ENSP00000322832.6:p.Gln84Ter
NM_024589.2:c.250C>T , LRG_455t1:c.250C>T	NP_078865.1:p.Gln84Ter
NR_046480.1:n.579+231C>T
NR_046480.2:n.262+231C>T
ENST00000322048.11:c.250C>T	ENSP00000322832.5:p.Gln84Ter
ENST00000585653.1:n.382C>T
ENST00000585871.1:n.740C>T
ENST00000586336.5:n.354+231C>T
ENST00000586504.5:c.30C>T
ENST00000587377.5:c.250C>T	ENSP00000468343.1:p.Gln84Ter
ENST00000587711.5:c.117+1110C>T	ENSP00000467459.1:n.117+1110C>T
ENST00000587843.5:c.200+231C>T	ENSP00000465970.1:n.200+231C>T
ENST00000588201.5:c.250C>T	ENSP00000466529.1:p.Gln84Ter
ENST00000589543.5:n.207C>T
ENST00000591292.5:n.891C>T
ENST00000591392.5:c.178C>T	ENSP00000467509.1:p.Gln60Ter
XM_006720947.2:c.250C>T	XP_006721010.1:p.Gln84Ter
XM_006720947.4:c.250C>T	XP_006721010.1:p.Gln84Ter
XM_006720948.2:c.-16+231C>T	XP_006721011.1:n.-16+231C>T
XM_006720948.4:c.-16+231C>T	XP_006721011.1:n.-16+231C>T