Canonical Allele Identifier: CA394650129

Gene: ROGDI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798103G>A , CM000678.2:g.4798103G>A	GRCh38
NC_000016.9:g.4848104G>A , CM000678.1:g.4848104G>A	GRCh37
NC_000016.8:g.4788105G>A	NCBI36
NG_032174.1:g.9848C>T , LRG_455:g.9848C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024589.3:c.613C>T MANE Select	NP_078865.1:p.Gln205Ter
ENST00000322048.12:c.613C>T MANE Select	ENSP00000322832.6:p.Gln205Ter
NM_024589.2:c.613C>T , LRG_455t1:c.613C>T	NP_078865.1:p.Gln205Ter
NR_046480.1:n.937C>T
NR_046480.2:n.620C>T
ENST00000322048.11:c.613C>T	ENSP00000322832.5:p.Gln205Ter
ENST00000586153.1:c.259C>T	ENSP00000464699.1:p.Gln87Ter
ENST00000586336.5:n.712C>T
ENST00000586504.5:c.393C>T
ENST00000587377.5:c.626C>T	ENSP00000468343.1:p.Pro209Leu
ENST00000587711.5:c.298C>T	ENSP00000467459.1:p.Gln100Ter
ENST00000587843.5:c.*351C>T	ENSP00000465970.1:n.*351C>T
ENST00000588201.5:c.*604C>T	ENSP00000466529.1:n.*604C>T
ENST00000589543.5:n.570C>T
ENST00000591292.5:n.1942C>T
ENST00000591392.5:c.541C>T	ENSP00000467509.1:p.Gln181Ter
ENST00000592019.1:c.77-288C>T
XM_006720947.2:c.613C>T	XP_006721010.1:p.Gln205Ter
XM_006720947.4:c.613C>T	XP_006721010.1:p.Gln205Ter
XM_006720948.2:c.343C>T	XP_006721011.1:p.Gln115Ter
XM_006720948.4:c.343C>T	XP_006721011.1:p.Gln115Ter