Canonical Allele Identifier: CA394649879

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848079G>T (hg19) ; chr16:g.4798078G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798078G>T , CM000678.2:g.4798078G>T	GRCh38
NC_000016.9:g.4848079G>T , CM000678.1:g.4848079G>T	GRCh37
NC_000016.8:g.4788080G>T	NCBI36
NG_032174.1:g.9873C>A , LRG_455:g.9873C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.638C>A MANE Select	ENSP00000322832.6:p.Ser213Tyr
ENST00000322048.11:c.638C>A	ENSP00000322832.5:p.Ser213Tyr
ENST00000586153.1:c.284C>A	ENSP00000464699.1:p.Ser95Tyr
ENST00000586336.5:n.737C>A
ENST00000586504.5:c.418C>A
ENST00000587377.5:c.651C>A	ENSP00000468343.1:p.Leu217=
ENST00000587711.5:c.323C>A	ENSP00000467459.1:p.Ser108Tyr
ENST00000587843.5:c.*376C>A	ENSP00000465970.1:n.*376C>A
ENST00000588201.5:c.*629C>A	ENSP00000466529.1:n.*629C>A
ENST00000589543.5:n.595C>A
ENST00000591292.5:n.1967C>A
ENST00000591392.5:c.566C>A	ENSP00000467509.1:p.Ser189Tyr
ENST00000592019.1:c.77-263C>A
NM_024589.2:c.638C>A , LRG_455t1:c.638C>A	NP_078865.1:p.Ser213Tyr
NR_046480.1:n.962C>A
XM_006720947.2:c.638C>A	XP_006721010.1:p.Ser213Tyr
XM_006720948.2:c.368C>A	XP_006721011.1:p.Ser123Tyr
XM_006720947.4:c.638C>A	XP_006721010.1:p.Ser213Tyr
XM_006720948.4:c.368C>A	XP_006721011.1:p.Ser123Tyr
NM_024589.3:c.638C>A MANE Select	NP_078865.1:p.Ser213Tyr
NR_046480.2:n.645C>A