Canonical Allele Identifier: CA7882575

Gene: ROGDI

Linked Data

• dbSNP Id: rs767856013
• ExAC: 16:4848003 A / G
• gnomAD v2: 16-4848003-A-G
• gnomAD v4: 16-4798002-A-G
• MyVariant Identifiers: chr16:g.4848003A>G (hg19) ; chr16:g.4798002A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798002A>G , CM000678.2:g.4798002A>G	GRCh38
NC_000016.9:g.4848003A>G , CM000678.1:g.4848003A>G	GRCh37
NC_000016.8:g.4788004A>G	NCBI36
NG_032174.1:g.9949T>C , LRG_455:g.9949T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.646-15T>C MANE Select	ENSP00000322832.6:n.646-15T>C
ENST00000322048.11:c.646-15T>C	ENSP00000322832.5:n.646-15T>C
ENST00000586153.1:c.292-15T>C	ENSP00000464699.1:n.292-15T>C
ENST00000586336.5:n.745-15T>C
ENST00000586504.5:c.425+69T>C
ENST00000587377.5:c.659-15T>C	ENSP00000468343.1:n.659-15T>C
ENST00000587711.5:c.331-15T>C	ENSP00000467459.1:n.331-15T>C
ENST00000587843.5:c.*384-15T>C	ENSP00000465970.1:n.*384-15T>C
ENST00000588201.5:c.*637-15T>C	ENSP00000466529.1:n.*637-15T>C
ENST00000589543.5:n.603-15T>C
ENST00000591292.5:n.1975-15T>C
ENST00000591392.5:c.574-15T>C	ENSP00000467509.1:n.574-15T>C
ENST00000592019.1:c.77-187T>C
NM_024589.2:c.646-15T>C , LRG_455t1:c.646-15T>C	NP_078865.1:n.646-15T>C
NR_046480.1:n.970-15T>C
XM_006720947.2:c.646-15T>C	XP_006721010.1:n.646-15T>C
XM_006720948.2:c.376-15T>C	XP_006721011.1:n.376-15T>C
XM_006720947.4:c.646-15T>C	XP_006721010.1:n.646-15T>C
XM_006720948.4:c.376-15T>C	XP_006721011.1:n.376-15T>C
NM_024589.3:c.646-15T>C MANE Select	NP_078865.1:n.646-15T>C
NR_046480.2:n.653-15T>C