Canonical Allele Identifier: CA394653257

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849713A>C (hg19) ; chr16:g.4799712A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799712A>C , CM000678.2:g.4799712A>C	GRCh38
NC_000016.9:g.4849713A>C , CM000678.1:g.4849713A>C	GRCh37
NC_000016.8:g.4789714A>C	NCBI36
NG_032174.1:g.8239T>G , LRG_455:g.8239T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.406T>G MANE Select	ENSP00000322832.6:p.Phe136Val
ENST00000322048.11:c.406T>G	ENSP00000322832.5:p.Phe136Val
ENST00000585653.1:n.538T>G
ENST00000586153.1:c.151T>G	ENSP00000464699.1:p.Phe51Val
ENST00000586336.5:n.505T>G
ENST00000586504.5:c.186T>G
ENST00000587377.5:c.406T>G	ENSP00000468343.1:p.Phe136Val
ENST00000587711.5:c.118-1045T>G	ENSP00000467459.1:n.118-1045T>G
ENST00000587843.5:c.*144T>G	ENSP00000465970.1:n.*144T>G
ENST00000588201.5:c.*263T>G	ENSP00000466529.1:n.*263T>G
ENST00000589543.5:n.363T>G
ENST00000591292.5:n.1735T>G
ENST00000591392.5:c.334T>G	ENSP00000467509.1:p.Phe112Val
ENST00000592019.1:c.76+49T>G
NM_024589.2:c.406T>G , LRG_455t1:c.406T>G	NP_078865.1:p.Phe136Val
NR_046480.1:n.730T>G
XM_006720947.2:c.406T>G	XP_006721010.1:p.Phe136Val
XM_006720948.2:c.136T>G	XP_006721011.1:p.Phe46Val
XM_006720947.4:c.406T>G	XP_006721010.1:p.Phe136Val
XM_006720948.4:c.136T>G	XP_006721011.1:p.Phe46Val
NM_024589.3:c.406T>G MANE Select	NP_078865.1:p.Phe136Val
NR_046480.2:n.413T>G