Canonical Allele Identifier: CA394653258

Gene: ROGDI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.406T>C MANE Select	ENSP00000322832.6:p.Phe136Leu
ENST00000322048.11:c.406T>C	ENSP00000322832.5:p.Phe136Leu
ENST00000585653.1:n.538T>C
ENST00000586153.1:c.151T>C	ENSP00000464699.1:p.Phe51Leu
ENST00000586336.5:n.505T>C
ENST00000586504.5:c.186T>C
ENST00000587377.5:c.406T>C	ENSP00000468343.1:p.Phe136Leu
ENST00000587711.5:c.118-1045T>C	ENSP00000467459.1:n.118-1045T>C
ENST00000587843.5:c.*144T>C	ENSP00000465970.1:n.*144T>C
ENST00000588201.5:c.*263T>C	ENSP00000466529.1:n.*263T>C
ENST00000589543.5:n.363T>C
ENST00000591292.5:n.1735T>C
ENST00000591392.5:c.334T>C	ENSP00000467509.1:p.Phe112Leu
ENST00000592019.1:c.76+49T>C
NM_024589.2:c.406T>C , LRG_455t1:c.406T>C	NP_078865.1:p.Phe136Leu
NR_046480.1:n.730T>C
XM_006720947.2:c.406T>C	XP_006721010.1:p.Phe136Leu
XM_006720948.2:c.136T>C	XP_006721011.1:p.Phe46Leu
XM_006720947.4:c.406T>C	XP_006721010.1:p.Phe136Leu
XM_006720948.4:c.136T>C	XP_006721011.1:p.Phe46Leu
NM_024589.3:c.406T>C MANE Select	NP_078865.1:p.Phe136Leu
NR_046480.2:n.413T>C