Canonical Allele Identifier: CA394649520

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847963A>T (hg19) ; chr16:g.4797962A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797962A>T , CM000678.2:g.4797962A>T	GRCh38
NC_000016.9:g.4847963A>T , CM000678.1:g.4847963A>T	GRCh37
NC_000016.8:g.4787964A>T	NCBI36
NG_032174.1:g.9989T>A , LRG_455:g.9989T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.671T>A MANE Select	ENSP00000322832.6:p.Val224Glu
ENST00000322048.11:c.671T>A	ENSP00000322832.5:p.Val224Glu
ENST00000586153.1:c.317T>A	ENSP00000464699.1:p.Val106Glu
ENST00000586336.5:n.770T>A
ENST00000586504.5:c.425+109T>A
ENST00000587377.5:c.684T>A	ENSP00000468343.1:p.Gly228=
ENST00000587711.5:c.356T>A	ENSP00000467459.1:p.Val119Glu
ENST00000587843.5:c.*409T>A	ENSP00000465970.1:n.*409T>A
ENST00000588201.5:c.*662T>A	ENSP00000466529.1:n.*662T>A
ENST00000589543.5:n.628T>A
ENST00000591292.5:n.2000T>A
ENST00000591392.5:c.599T>A	ENSP00000467509.1:p.Val200Glu
ENST00000592019.1:c.77-147T>A
NM_024589.2:c.671T>A , LRG_455t1:c.671T>A	NP_078865.1:p.Val224Glu
NR_046480.1:n.995T>A
XM_006720947.2:c.671T>A	XP_006721010.1:p.Val224Glu
XM_006720948.2:c.401T>A	XP_006721011.1:p.Val134Glu
XM_006720947.4:c.671T>A	XP_006721010.1:p.Val224Glu
XM_006720948.4:c.401T>A	XP_006721011.1:p.Val134Glu
NM_024589.3:c.671T>A MANE Select	NP_078865.1:p.Val224Glu
NR_046480.2:n.678T>A