Canonical Allele Identifier: CA394653336

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 860290
• ClinVar RCV Id: RCV001066570
• dbSNP Id: rs2082694603
• MyVariant Identifiers: chr16:g.4849727T>G (hg19) ; chr16:g.4799726T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799726T>G , CM000678.2:g.4799726T>G	GRCh38
NC_000016.9:g.4849727T>G , CM000678.1:g.4849727T>G	GRCh37
NC_000016.8:g.4789728T>G	NCBI36
NG_032174.1:g.8225A>C , LRG_455:g.8225A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.392A>C MANE Select	ENSP00000322832.6:p.Asp131Ala
ENST00000322048.11:c.392A>C	ENSP00000322832.5:p.Asp131Ala
ENST00000585653.1:n.524A>C
ENST00000586153.1:c.137A>C	ENSP00000464699.1:p.Asp46Ala
ENST00000586336.5:n.491A>C
ENST00000586504.5:c.172A>C
ENST00000587377.5:c.392A>C	ENSP00000468343.1:p.Asp131Ala
ENST00000587711.5:c.118-1059A>C	ENSP00000467459.1:n.118-1059A>C
ENST00000587843.5:c.*130A>C	ENSP00000465970.1:n.*130A>C
ENST00000588201.5:c.*249A>C	ENSP00000466529.1:n.*249A>C
ENST00000589543.5:n.349A>C
ENST00000591292.5:n.1721A>C
ENST00000591392.5:c.320A>C	ENSP00000467509.1:p.Asp107Ala
ENST00000592019.1:c.76+35A>C
NM_024589.2:c.392A>C , LRG_455t1:c.392A>C	NP_078865.1:p.Asp131Ala
NR_046480.1:n.716A>C
XM_006720947.2:c.392A>C	XP_006721010.1:p.Asp131Ala
XM_006720948.2:c.122A>C	XP_006721011.1:p.Asp41Ala
XM_006720947.4:c.392A>C	XP_006721010.1:p.Asp131Ala
XM_006720948.4:c.122A>C	XP_006721011.1:p.Asp41Ala
NM_024589.3:c.392A>C MANE Select	NP_078865.1:p.Asp131Ala
NR_046480.2:n.399A>C