Canonical Allele Identifier: CA394650550

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848154A>T (hg19) ; chr16:g.4798153A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798153A>T , CM000678.2:g.4798153A>T	GRCh38
NC_000016.9:g.4848154A>T , CM000678.1:g.4848154A>T	GRCh37
NC_000016.8:g.4788155A>T	NCBI36
NG_032174.1:g.9798T>A , LRG_455:g.9798T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.563T>A MANE Select	ENSP00000322832.6:p.Leu188Gln
ENST00000322048.11:c.563T>A	ENSP00000322832.5:p.Leu188Gln
ENST00000586153.1:c.209T>A	ENSP00000464699.1:p.Leu70Gln
ENST00000586336.5:n.662T>A
ENST00000586504.5:c.343T>A
ENST00000587377.5:c.576T>A	ENSP00000468343.1:p.Pro192=
ENST00000587711.5:c.248T>A	ENSP00000467459.1:p.Leu83Gln
ENST00000587843.5:c.*301T>A	ENSP00000465970.1:n.*301T>A
ENST00000588201.5:c.*554T>A	ENSP00000466529.1:n.*554T>A
ENST00000589543.5:n.520T>A
ENST00000591292.5:n.1892T>A
ENST00000591392.5:c.491T>A	ENSP00000467509.1:p.Leu164Gln
ENST00000592019.1:c.77-338T>A
NM_024589.2:c.563T>A , LRG_455t1:c.563T>A	NP_078865.1:p.Leu188Gln
NR_046480.1:n.887T>A
XM_006720947.2:c.563T>A	XP_006721010.1:p.Leu188Gln
XM_006720948.2:c.293T>A	XP_006721011.1:p.Leu98Gln
XM_006720947.4:c.563T>A	XP_006721010.1:p.Leu188Gln
XM_006720948.4:c.293T>A	XP_006721011.1:p.Leu98Gln
NM_024589.3:c.563T>A MANE Select	NP_078865.1:p.Leu188Gln
NR_046480.2:n.570T>A