Canonical Allele Identifier: CA891843805

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 583387
• ClinVar RCV Id: RCV000707712
• dbSNP Id: rs1567597416
• MyVariant Identifiers: chr16:g.4847934C>T (hg19) ; chr16:g.4797933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797933C>T , CM000678.2:g.4797933C>T	GRCh38
NC_000016.9:g.4847934C>T , CM000678.1:g.4847934C>T	GRCh37
NC_000016.8:g.4787935C>T	NCBI36
NG_032174.1:g.10018G>A , LRG_455:g.10018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.695+5G>A MANE Select	ENSP00000322832.6:n.695+5G>A
ENST00000322048.11:c.695+5G>A	ENSP00000322832.5:n.695+5G>A
ENST00000586153.1:c.341+5G>A	ENSP00000464699.1:n.341+5G>A
ENST00000586336.5:n.794+5G>A
ENST00000586504.5:c.426-93G>A
ENST00000587377.5:c.*15+5G>A	ENSP00000468343.1:n.*15+5G>A
ENST00000587711.5:c.380+5G>A	ENSP00000467459.1:n.380+5G>A
ENST00000587843.5:c.*433+5G>A	ENSP00000465970.1:n.*433+5G>A
ENST00000588201.5:c.*686+5G>A	ENSP00000466529.1:n.*686+5G>A
ENST00000589543.5:n.652+5G>A
ENST00000591292.5:n.2024+5G>A
ENST00000591392.5:c.623+5G>A	ENSP00000467509.1:n.623+5G>A
ENST00000592019.1:c.77-118G>A
NM_024589.2:c.695+5G>A , LRG_455t1:c.695+5G>A	NP_078865.1:n.695+5G>A
NR_046480.1:n.1019+5G>A
XM_006720947.2:c.695+5G>A	XP_006721010.1:n.695+5G>A
XM_006720948.2:c.425+5G>A	XP_006721011.1:n.425+5G>A
XM_006720947.4:c.695+5G>A	XP_006721010.1:n.695+5G>A
XM_006720948.4:c.425+5G>A	XP_006721011.1:n.425+5G>A
NM_024589.3:c.695+5G>A MANE Select	NP_078865.1:n.695+5G>A
NR_046480.2:n.702+5G>A