Canonical Allele Identifier: CA7882572

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 261744
• ClinVar RCV Id: RCV000249977 ; RCV000316306 ; RCV000712941
• dbSNP Id: rs115660765
• ExAC: 16:4847993 G / A
• gnomAD v2: 16-4847993-G-A
• gnomAD v3: 16-4797992-G-A
• gnomAD v4: 16-4797992-G-A
• MyVariant Identifiers: chr16:g.4847993G>A (hg19) ; chr16:g.4797992G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797992G>A , CM000678.2:g.4797992G>A	GRCh38
NC_000016.9:g.4847993G>A , CM000678.1:g.4847993G>A	GRCh37
NC_000016.8:g.4787994G>A	NCBI36
NG_032174.1:g.9959C>T , LRG_455:g.9959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.646-5C>T MANE Select	ENSP00000322832.6:n.646-5C>T
ENST00000322048.11:c.646-5C>T	ENSP00000322832.5:n.646-5C>T
ENST00000586153.1:c.292-5C>T	ENSP00000464699.1:n.292-5C>T
ENST00000586336.5:n.745-5C>T
ENST00000586504.5:c.425+79C>T
ENST00000587377.5:c.659-5C>T	ENSP00000468343.1:n.659-5C>T
ENST00000587711.5:c.331-5C>T	ENSP00000467459.1:n.331-5C>T
ENST00000587843.5:c.*384-5C>T	ENSP00000465970.1:n.*384-5C>T
ENST00000588201.5:c.*637-5C>T	ENSP00000466529.1:n.*637-5C>T
ENST00000589543.5:n.603-5C>T
ENST00000591292.5:n.1975-5C>T
ENST00000591392.5:c.574-5C>T	ENSP00000467509.1:n.574-5C>T
ENST00000592019.1:c.77-177C>T
NM_024589.2:c.646-5C>T , LRG_455t1:c.646-5C>T	NP_078865.1:n.646-5C>T
NR_046480.1:n.970-5C>T
XM_006720947.2:c.646-5C>T	XP_006721010.1:n.646-5C>T
XM_006720948.2:c.376-5C>T	XP_006721011.1:n.376-5C>T
XM_006720947.4:c.646-5C>T	XP_006721010.1:n.646-5C>T
XM_006720948.4:c.376-5C>T	XP_006721011.1:n.376-5C>T
NM_024589.3:c.646-5C>T MANE Select	NP_078865.1:n.646-5C>T
NR_046480.2:n.653-5C>T