Canonical Allele Identifier: CA394653964

Gene: ROGDI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4800503G>A , CM000678.2:g.4800503G>A	GRCh38
NC_000016.9:g.4850504G>A , CM000678.1:g.4850504G>A	GRCh37
NC_000016.8:g.4790505G>A	NCBI36
NG_032174.1:g.7448C>T , LRG_455:g.7448C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024589.3:c.331C>T MANE Select	NP_078865.1:p.Gln111Ter
ENST00000322048.12:c.331C>T MANE Select	ENSP00000322832.6:p.Gln111Ter
NM_024589.2:c.331C>T , LRG_455t1:c.331C>T	NP_078865.1:p.Gln111Ter
NR_046480.1:n.655C>T
NR_046480.2:n.338C>T
ENST00000322048.11:c.331C>T	ENSP00000322832.5:p.Gln111Ter
ENST00000585653.1:n.463C>T
ENST00000586153.1:c.76C>T	ENSP00000464699.1:p.Gln26Ter
ENST00000586336.5:n.430C>T
ENST00000586504.5:c.111C>T
ENST00000587377.5:c.331C>T	ENSP00000468343.1:p.Gln111Ter
ENST00000587711.5:c.118-1836C>T	ENSP00000467459.1:n.118-1836C>T
ENST00000587843.5:c.*69C>T	ENSP00000465970.1:n.*69C>T
ENST00000588201.5:c.*188C>T	ENSP00000466529.1:n.*188C>T
ENST00000589543.5:n.288C>T
ENST00000591292.5:n.1660C>T
ENST00000591392.5:c.259C>T	ENSP00000467509.1:p.Gln87Ter
ENST00000592019.1:c.50C>T
XM_006720947.2:c.331C>T	XP_006721010.1:p.Gln111Ter
XM_006720947.4:c.331C>T	XP_006721010.1:p.Gln111Ter
XM_006720948.2:c.61C>T	XP_006721011.1:p.Gln21Ter
XM_006720948.4:c.61C>T	XP_006721011.1:p.Gln21Ter