Canonical Allele Identifier: CA658658389

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 461616
• ClinVar RCV Id: RCV000559509
• dbSNP Id: rs1555490999
• MyVariant Identifiers: chr16:g.4847932T>C (hg19) ; chr16:g.4797931T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797931T>C , CM000678.2:g.4797931T>C	GRCh38
NC_000016.9:g.4847932T>C , CM000678.1:g.4847932T>C	GRCh37
NC_000016.8:g.4787933T>C	NCBI36
NG_032174.1:g.10020A>G , LRG_455:g.10020A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.695+7A>G MANE Select	ENSP00000322832.6:n.695+7A>G
ENST00000322048.11:c.695+7A>G	ENSP00000322832.5:n.695+7A>G
ENST00000586153.1:c.341+7A>G	ENSP00000464699.1:n.341+7A>G
ENST00000586336.5:n.794+7A>G
ENST00000586504.5:c.426-91A>G
ENST00000587377.5:c.*15+7A>G	ENSP00000468343.1:n.*15+7A>G
ENST00000587711.5:c.380+7A>G	ENSP00000467459.1:n.380+7A>G
ENST00000587843.5:c.*433+7A>G	ENSP00000465970.1:n.*433+7A>G
ENST00000588201.5:c.*686+7A>G	ENSP00000466529.1:n.*686+7A>G
ENST00000589543.5:n.652+7A>G
ENST00000591292.5:n.2024+7A>G
ENST00000591392.5:c.623+7A>G	ENSP00000467509.1:n.623+7A>G
ENST00000592019.1:c.77-116A>G
NM_024589.2:c.695+7A>G , LRG_455t1:c.695+7A>G	NP_078865.1:n.695+7A>G
NR_046480.1:n.1019+7A>G
XM_006720947.2:c.695+7A>G	XP_006721010.1:n.695+7A>G
XM_006720948.2:c.425+7A>G	XP_006721011.1:n.425+7A>G
XM_006720947.4:c.695+7A>G	XP_006721010.1:n.695+7A>G
XM_006720948.4:c.425+7A>G	XP_006721011.1:n.425+7A>G
NM_024589.3:c.695+7A>G MANE Select	NP_078865.1:n.695+7A>G
NR_046480.2:n.702+7A>G