Canonical Allele Identifier: CA7882570

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 1122616
• ClinVar RCV Id: RCV001453336
• dbSNP Id: rs773539275
• ExAC: 16:4847983 G / A
• gnomAD v2: 16-4847983-G-A
• gnomAD v3: 16-4797982-G-A
• gnomAD v4: 16-4797982-G-A
• MyVariant Identifiers: chr16:g.4847983G>A (hg19) ; chr16:g.4797982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797982G>A , CM000678.2:g.4797982G>A	GRCh38
NC_000016.9:g.4847983G>A , CM000678.1:g.4847983G>A	GRCh37
NC_000016.8:g.4787984G>A	NCBI36
NG_032174.1:g.9969C>T , LRG_455:g.9969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.651C>T MANE Select	ENSP00000322832.6:p.Phe217=
ENST00000322048.11:c.651C>T	ENSP00000322832.5:p.Phe217=
ENST00000586153.1:c.297C>T	ENSP00000464699.1:p.Phe99=
ENST00000586336.5:n.750C>T
ENST00000586504.5:c.425+89C>T
ENST00000587377.5:c.664C>T	ENSP00000468343.1:p.Pro222Ser
ENST00000587711.5:c.336C>T	ENSP00000467459.1:p.Phe112=
ENST00000587843.5:c.*389C>T	ENSP00000465970.1:n.*389C>T
ENST00000588201.5:c.*642C>T	ENSP00000466529.1:n.*642C>T
ENST00000589543.5:n.608C>T
ENST00000591292.5:n.1980C>T
ENST00000591392.5:c.579C>T	ENSP00000467509.1:p.Phe193=
ENST00000592019.1:c.77-167C>T
NM_024589.2:c.651C>T , LRG_455t1:c.651C>T	NP_078865.1:p.Phe217=
NR_046480.1:n.975C>T
XM_006720947.2:c.651C>T	XP_006721010.1:p.Phe217=
XM_006720948.2:c.381C>T	XP_006721011.1:p.Phe127=
XM_006720947.4:c.651C>T	XP_006721010.1:p.Phe217=
XM_006720948.4:c.381C>T	XP_006721011.1:p.Phe127=
NM_024589.3:c.651C>T MANE Select	NP_078865.1:p.Phe217=
NR_046480.2:n.658C>T