Canonical Allele Identifier: CA7882573

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 1405452
• ClinVar RCV Id: RCV001903818
• dbSNP Id: rs200792197
• ExAC: 16:4847994 G / C
• gnomAD v2: 16-4847994-G-C
• gnomAD v4: 16-4797993-G-C
• MyVariant Identifiers: chr16:g.4847994G>C (hg19) ; chr16:g.4797993G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797993G>C , CM000678.2:g.4797993G>C	GRCh38
NC_000016.9:g.4847994G>C , CM000678.1:g.4847994G>C	GRCh37
NC_000016.8:g.4787995G>C	NCBI36
NG_032174.1:g.9958C>G , LRG_455:g.9958C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.646-6C>G MANE Select	ENSP00000322832.6:n.646-6C>G
ENST00000322048.11:c.646-6C>G	ENSP00000322832.5:n.646-6C>G
ENST00000586153.1:c.292-6C>G	ENSP00000464699.1:n.292-6C>G
ENST00000586336.5:n.745-6C>G
ENST00000586504.5:c.425+78C>G
ENST00000587377.5:c.659-6C>G	ENSP00000468343.1:n.659-6C>G
ENST00000587711.5:c.331-6C>G	ENSP00000467459.1:n.331-6C>G
ENST00000587843.5:c.*384-6C>G	ENSP00000465970.1:n.*384-6C>G
ENST00000588201.5:c.*637-6C>G	ENSP00000466529.1:n.*637-6C>G
ENST00000589543.5:n.603-6C>G
ENST00000591292.5:n.1975-6C>G
ENST00000591392.5:c.574-6C>G	ENSP00000467509.1:n.574-6C>G
ENST00000592019.1:c.77-178C>G
NM_024589.2:c.646-6C>G , LRG_455t1:c.646-6C>G	NP_078865.1:n.646-6C>G
NR_046480.1:n.970-6C>G
XM_006720947.2:c.646-6C>G	XP_006721010.1:n.646-6C>G
XM_006720948.2:c.376-6C>G	XP_006721011.1:n.376-6C>G
XM_006720947.4:c.646-6C>G	XP_006721010.1:n.646-6C>G
XM_006720948.4:c.376-6C>G	XP_006721011.1:n.376-6C>G
NM_024589.3:c.646-6C>G MANE Select	NP_078865.1:n.646-6C>G
NR_046480.2:n.653-6C>G