Canonical Allele Identifier: CA493320320

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849711G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799710G>A , CM000678.2:g.4799710G>A	GRCh38
NC_000016.9:g.4849711G>A , CM000678.1:g.4849711G>A	GRCh37
NC_000016.8:g.4789712G>A	NCBI36
NG_032174.1:g.8241C>T , LRG_455:g.8241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.408C>T MANE Select	ENSP00000322832.6:p.Phe136=
ENST00000322048.11:c.408C>T	ENSP00000322832.5:p.Phe136=
ENST00000585653.1:n.540C>T
ENST00000586153.1:c.153C>T	ENSP00000464699.1:p.Phe51=
ENST00000586336.5:n.507C>T
ENST00000586504.5:c.188C>T
ENST00000587377.5:c.408C>T	ENSP00000468343.1:p.Phe136=
ENST00000587711.5:c.118-1043C>T	ENSP00000467459.1:n.118-1043C>T
ENST00000587843.5:c.*146C>T	ENSP00000465970.1:n.*146C>T
ENST00000588201.5:c.*265C>T	ENSP00000466529.1:n.*265C>T
ENST00000589543.5:n.365C>T
ENST00000591292.5:n.1737C>T
ENST00000591392.5:c.336C>T	ENSP00000467509.1:p.Phe112=
ENST00000592019.1:c.76+51C>T
NM_024589.2:c.408C>T , LRG_455t1:c.408C>T	NP_078865.1:p.Phe136=
NR_046480.1:n.732C>T
XM_006720947.2:c.408C>T	XP_006721010.1:p.Phe136=
XM_006720948.2:c.138C>T	XP_006721011.1:p.Phe46=
XM_006720947.4:c.408C>T	XP_006721010.1:p.Phe136=
XM_006720948.4:c.138C>T	XP_006721011.1:p.Phe46=
NM_024589.3:c.408C>T MANE Select	NP_078865.1:p.Phe136=
NR_046480.2:n.415C>T