Canonical Allele Identifier: CA7882686

Gene: ROGDI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798586C>T , CM000678.2:g.4798586C>T	GRCh38
NC_000016.9:g.4848587C>T , CM000678.1:g.4848587C>T	GRCh37
NC_000016.8:g.4788588C>T	NCBI36
NG_032174.1:g.9365G>A , LRG_455:g.9365G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024589.3:c.514G>A MANE Select	NP_078865.1:p.Ala172Thr
ENST00000322048.12:c.514G>A MANE Select	ENSP00000322832.6:p.Ala172Thr
NM_024589.2:c.514G>A , LRG_455t1:c.514G>A	NP_078865.1:p.Ala172Thr
NR_046480.1:n.838G>A
NR_046480.2:n.521G>A
ENST00000322048.11:c.514G>A	ENSP00000322832.5:p.Ala172Thr
ENST00000585653.1:n.646G>A
ENST00000586153.1:c.178-402G>A	ENSP00000464699.1:n.178-402G>A
ENST00000586336.5:n.613G>A
ENST00000586504.5:c.294G>A
ENST00000587377.5:c.527G>A	ENSP00000468343.1:p.Arg176His
ENST00000587711.5:c.199G>A	ENSP00000467459.1:p.Ala67Thr
ENST00000587843.5:c.*252G>A	ENSP00000465970.1:n.*252G>A
ENST00000588201.5:c.*505G>A	ENSP00000466529.1:n.*505G>A
ENST00000589543.5:n.471G>A
ENST00000591292.5:n.1843G>A
ENST00000591392.5:c.442G>A	ENSP00000467509.1:p.Ala148Thr
ENST00000592019.1:c.77-771G>A
XM_006720947.2:c.514G>A	XP_006721010.1:p.Ala172Thr
XM_006720947.4:c.514G>A	XP_006721010.1:p.Ala172Thr
XM_006720948.2:c.244G>A	XP_006721011.1:p.Ala82Thr
XM_006720948.4:c.244G>A	XP_006721011.1:p.Ala82Thr