Canonical Allele Identifier: CA7882749

Gene: ROGDI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799708T>C , CM000678.2:g.4799708T>C	GRCh38
NC_000016.9:g.4849709T>C , CM000678.1:g.4849709T>C	GRCh37
NC_000016.8:g.4789710T>C	NCBI36
NG_032174.1:g.8243A>G , LRG_455:g.8243A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024589.3:c.410A>G MANE Select	NP_078865.1:p.Lys137Arg
ENST00000322048.12:c.410A>G MANE Select	ENSP00000322832.6:p.Lys137Arg
NM_024589.2:c.410A>G , LRG_455t1:c.410A>G	NP_078865.1:p.Lys137Arg
NR_046480.1:n.734A>G
NR_046480.2:n.417A>G
ENST00000322048.11:c.410A>G	ENSP00000322832.5:p.Lys137Arg
ENST00000585653.1:n.542A>G
ENST00000586153.1:c.155A>G	ENSP00000464699.1:p.Lys52Arg
ENST00000586336.5:n.509A>G
ENST00000586504.5:c.190A>G
ENST00000587377.5:c.410A>G	ENSP00000468343.1:p.Lys137Arg
ENST00000587711.5:c.118-1041A>G	ENSP00000467459.1:n.118-1041A>G
ENST00000587843.5:c.*148A>G	ENSP00000465970.1:n.*148A>G
ENST00000588201.5:c.*267A>G	ENSP00000466529.1:n.*267A>G
ENST00000589543.5:n.367A>G
ENST00000591292.5:n.1739A>G
ENST00000591392.5:c.338A>G	ENSP00000467509.1:p.Lys113Arg
ENST00000592019.1:c.76+53A>G
XM_006720947.2:c.410A>G	XP_006721010.1:p.Lys137Arg
XM_006720947.4:c.410A>G	XP_006721010.1:p.Lys137Arg
XM_006720948.2:c.140A>G	XP_006721011.1:p.Lys47Arg
XM_006720948.4:c.140A>G	XP_006721011.1:p.Lys47Arg