Canonical Allele Identifier: CA493404927

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848152G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798151G>A , CM000678.2:g.4798151G>A	GRCh38
NC_000016.9:g.4848152G>A , CM000678.1:g.4848152G>A	GRCh37
NC_000016.8:g.4788153G>A	NCBI36
NG_032174.1:g.9800C>T , LRG_455:g.9800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.565C>T MANE Select	ENSP00000322832.6:p.Leu189=
ENST00000322048.11:c.565C>T	ENSP00000322832.5:p.Leu189=
ENST00000586153.1:c.211C>T	ENSP00000464699.1:p.Leu71=
ENST00000586336.5:n.664C>T
ENST00000586504.5:c.345C>T
ENST00000587377.5:c.578C>T	ENSP00000468343.1:p.Ala193Val
ENST00000587711.5:c.250C>T	ENSP00000467459.1:p.Leu84=
ENST00000587843.5:c.*303C>T	ENSP00000465970.1:n.*303C>T
ENST00000588201.5:c.*556C>T	ENSP00000466529.1:n.*556C>T
ENST00000589543.5:n.522C>T
ENST00000591292.5:n.1894C>T
ENST00000591392.5:c.493C>T	ENSP00000467509.1:p.Leu165=
ENST00000592019.1:c.77-336C>T
NM_024589.2:c.565C>T , LRG_455t1:c.565C>T	NP_078865.1:p.Leu189=
NR_046480.1:n.889C>T
XM_006720947.2:c.565C>T	XP_006721010.1:p.Leu189=
XM_006720948.2:c.295C>T	XP_006721011.1:p.Leu99=
XM_006720947.4:c.565C>T	XP_006721010.1:p.Leu189=
XM_006720948.4:c.295C>T	XP_006721011.1:p.Leu99=
NM_024589.3:c.565C>T MANE Select	NP_078865.1:p.Leu189=
NR_046480.2:n.572C>T