Canonical Allele Identifier: CA394649915

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848085G>A (hg19) ; chr16:g.4798084G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798084G>A , CM000678.2:g.4798084G>A	GRCh38
NC_000016.9:g.4848085G>A , CM000678.1:g.4848085G>A	GRCh37
NC_000016.8:g.4788086G>A	NCBI36
NG_032174.1:g.9867C>T , LRG_455:g.9867C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.632C>T MANE Select	ENSP00000322832.6:p.Pro211Leu
ENST00000322048.11:c.632C>T	ENSP00000322832.5:p.Pro211Leu
ENST00000586153.1:c.278C>T	ENSP00000464699.1:p.Pro93Leu
ENST00000586336.5:n.731C>T
ENST00000586504.5:c.412C>T
ENST00000587377.5:c.645C>T	ENSP00000468343.1:p.Ala215=
ENST00000587711.5:c.317C>T	ENSP00000467459.1:p.Pro106Leu
ENST00000587843.5:c.*370C>T	ENSP00000465970.1:n.*370C>T
ENST00000588201.5:c.*623C>T	ENSP00000466529.1:n.*623C>T
ENST00000589543.5:n.589C>T
ENST00000591292.5:n.1961C>T
ENST00000591392.5:c.560C>T	ENSP00000467509.1:p.Pro187Leu
ENST00000592019.1:c.77-269C>T
NM_024589.2:c.632C>T , LRG_455t1:c.632C>T	NP_078865.1:p.Pro211Leu
NR_046480.1:n.956C>T
XM_006720947.2:c.632C>T	XP_006721010.1:p.Pro211Leu
XM_006720948.2:c.362C>T	XP_006721011.1:p.Pro121Leu
XM_006720947.4:c.632C>T	XP_006721010.1:p.Pro211Leu
XM_006720948.4:c.362C>T	XP_006721011.1:p.Pro121Leu
NM_024589.3:c.632C>T MANE Select	NP_078865.1:p.Pro211Leu
NR_046480.2:n.639C>T