Canonical Allele Identifier: CA493404918

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848141G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798140G>T , CM000678.2:g.4798140G>T	GRCh38
NC_000016.9:g.4848141G>T , CM000678.1:g.4848141G>T	GRCh37
NC_000016.8:g.4788142G>T	NCBI36
NG_032174.1:g.9811C>A , LRG_455:g.9811C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.576C>A MANE Select	ENSP00000322832.6:p.Val192=
ENST00000322048.11:c.576C>A	ENSP00000322832.5:p.Val192=
ENST00000586153.1:c.222C>A	ENSP00000464699.1:p.Val74=
ENST00000586336.5:n.675C>A
ENST00000586504.5:c.356C>A
ENST00000587377.5:c.589C>A	ENSP00000468343.1:p.Leu197Ile
ENST00000587711.5:c.261C>A	ENSP00000467459.1:p.Val87=
ENST00000587843.5:c.*314C>A	ENSP00000465970.1:n.*314C>A
ENST00000588201.5:c.*567C>A	ENSP00000466529.1:n.*567C>A
ENST00000589543.5:n.533C>A
ENST00000591292.5:n.1905C>A
ENST00000591392.5:c.504C>A	ENSP00000467509.1:p.Val168=
ENST00000592019.1:c.77-325C>A
NM_024589.2:c.576C>A , LRG_455t1:c.576C>A	NP_078865.1:p.Val192=
NR_046480.1:n.900C>A
XM_006720947.2:c.576C>A	XP_006721010.1:p.Val192=
XM_006720948.2:c.306C>A	XP_006721011.1:p.Val102=
XM_006720947.4:c.576C>A	XP_006721010.1:p.Val192=
XM_006720948.4:c.306C>A	XP_006721011.1:p.Val102=
NM_024589.3:c.576C>A MANE Select	NP_078865.1:p.Val192=
NR_046480.2:n.583C>A