Canonical Allele Identifier: CA394650537

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848151A>C (hg19) ; chr16:g.4798150A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798150A>C , CM000678.2:g.4798150A>C	GRCh38
NC_000016.9:g.4848151A>C , CM000678.1:g.4848151A>C	GRCh37
NC_000016.8:g.4788152A>C	NCBI36
NG_032174.1:g.9801T>G , LRG_455:g.9801T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.566T>G MANE Select	ENSP00000322832.6:p.Leu189Arg
ENST00000322048.11:c.566T>G	ENSP00000322832.5:p.Leu189Arg
ENST00000586153.1:c.212T>G	ENSP00000464699.1:p.Leu71Arg
ENST00000586336.5:n.665T>G
ENST00000586504.5:c.346T>G
ENST00000587377.5:c.579T>G	ENSP00000468343.1:p.Ala193=
ENST00000587711.5:c.251T>G	ENSP00000467459.1:p.Leu84Arg
ENST00000587843.5:c.*304T>G	ENSP00000465970.1:n.*304T>G
ENST00000588201.5:c.*557T>G	ENSP00000466529.1:n.*557T>G
ENST00000589543.5:n.523T>G
ENST00000591292.5:n.1895T>G
ENST00000591392.5:c.494T>G	ENSP00000467509.1:p.Leu165Arg
ENST00000592019.1:c.77-335T>G
NM_024589.2:c.566T>G , LRG_455t1:c.566T>G	NP_078865.1:p.Leu189Arg
NR_046480.1:n.890T>G
XM_006720947.2:c.566T>G	XP_006721010.1:p.Leu189Arg
XM_006720948.2:c.296T>G	XP_006721011.1:p.Leu99Arg
XM_006720947.4:c.566T>G	XP_006721010.1:p.Leu189Arg
XM_006720948.4:c.296T>G	XP_006721011.1:p.Leu99Arg
NM_024589.3:c.566T>G MANE Select	NP_078865.1:p.Leu189Arg
NR_046480.2:n.573T>G