Canonical Allele Identifier: CA2203529019

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 2136460
• ClinVar RCV Id: RCV003060075
• dbSNP Id: rs772053878

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797921C>G , CM000678.2:g.4797921C>G	GRCh38
NC_000016.9:g.4847922C>G , CM000678.1:g.4847922C>G	GRCh37
NC_000016.8:g.4787923C>G	NCBI36
NG_032174.1:g.10030G>C , LRG_455:g.10030G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.695+17G>C MANE Select	ENSP00000322832.6:n.695+17G>C
ENST00000322048.11:c.695+17G>C	ENSP00000322832.5:n.695+17G>C
ENST00000586153.1:c.341+17G>C	ENSP00000464699.1:n.341+17G>C
ENST00000586336.5:n.794+17G>C
ENST00000586504.5:c.426-81G>C
ENST00000587377.5:c.*15+17G>C	ENSP00000468343.1:n.*15+17G>C
ENST00000587711.5:c.380+17G>C	ENSP00000467459.1:n.380+17G>C
ENST00000587843.5:c.*433+17G>C	ENSP00000465970.1:n.*433+17G>C
ENST00000588201.5:c.*686+17G>C	ENSP00000466529.1:n.*686+17G>C
ENST00000589543.5:n.652+17G>C
ENST00000591292.5:n.2024+17G>C
ENST00000591392.5:c.623+17G>C	ENSP00000467509.1:n.623+17G>C
ENST00000592019.1:c.77-106G>C
NM_024589.2:c.695+17G>C , LRG_455t1:c.695+17G>C	NP_078865.1:n.695+17G>C
NR_046480.1:n.1019+17G>C
XM_006720947.2:c.695+17G>C	XP_006721010.1:n.695+17G>C
XM_006720948.2:c.425+17G>C	XP_006721011.1:n.425+17G>C
XM_006720947.4:c.695+17G>C	XP_006721010.1:n.695+17G>C
XM_006720948.4:c.425+17G>C	XP_006721011.1:n.425+17G>C
NM_024589.3:c.695+17G>C MANE Select	NP_078865.1:n.695+17G>C
NR_046480.2:n.702+17G>C