Canonical Allele Identifier: CA2203529030

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 1467871
• ClinVar RCV Id: RCV001993514
• dbSNP Id: rs2082672876

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797932A>G , CM000678.2:g.4797932A>G	GRCh38
NC_000016.9:g.4847933A>G , CM000678.1:g.4847933A>G	GRCh37
NC_000016.8:g.4787934A>G	NCBI36
NG_032174.1:g.10019T>C , LRG_455:g.10019T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.695+6T>C MANE Select	ENSP00000322832.6:n.695+6T>C
ENST00000322048.11:c.695+6T>C	ENSP00000322832.5:n.695+6T>C
ENST00000586153.1:c.341+6T>C	ENSP00000464699.1:n.341+6T>C
ENST00000586336.5:n.794+6T>C
ENST00000586504.5:c.426-92T>C
ENST00000587377.5:c.*15+6T>C	ENSP00000468343.1:n.*15+6T>C
ENST00000587711.5:c.380+6T>C	ENSP00000467459.1:n.380+6T>C
ENST00000587843.5:c.*433+6T>C	ENSP00000465970.1:n.*433+6T>C
ENST00000588201.5:c.*686+6T>C	ENSP00000466529.1:n.*686+6T>C
ENST00000589543.5:n.652+6T>C
ENST00000591292.5:n.2024+6T>C
ENST00000591392.5:c.623+6T>C	ENSP00000467509.1:n.623+6T>C
ENST00000592019.1:c.77-117T>C
NM_024589.2:c.695+6T>C , LRG_455t1:c.695+6T>C	NP_078865.1:n.695+6T>C
NR_046480.1:n.1019+6T>C
XM_006720947.2:c.695+6T>C	XP_006721010.1:n.695+6T>C
XM_006720948.2:c.425+6T>C	XP_006721011.1:n.425+6T>C
XM_006720947.4:c.695+6T>C	XP_006721010.1:n.695+6T>C
XM_006720948.4:c.425+6T>C	XP_006721011.1:n.425+6T>C
NM_024589.3:c.695+6T>C MANE Select	NP_078865.1:n.695+6T>C
NR_046480.2:n.702+6T>C