Canonical Allele Identifier: CA7882571

Gene: ROGDI

Linked Data

• dbSNP Id: rs749431645
• ExAC: 16:4847990 T / C
• gnomAD v2: 16-4847990-T-C
• gnomAD v4: 16-4797989-T-C
• MyVariant Identifiers: chr16:g.4847990T>C (hg19) ; chr16:g.4797989T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797989T>C , CM000678.2:g.4797989T>C	GRCh38
NC_000016.9:g.4847990T>C , CM000678.1:g.4847990T>C	GRCh37
NC_000016.8:g.4787991T>C	NCBI36
NG_032174.1:g.9962A>G , LRG_455:g.9962A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.646-2A>G MANE Select	ENSP00000322832.6:n.646-2A>G
ENST00000322048.11:c.646-2A>G	ENSP00000322832.5:n.646-2A>G
ENST00000586153.1:c.292-2A>G	ENSP00000464699.1:n.292-2A>G
ENST00000586336.5:n.745-2A>G
ENST00000586504.5:c.425+82A>G
ENST00000587377.5:c.659-2A>G	ENSP00000468343.1:n.659-2A>G
ENST00000587711.5:c.331-2A>G	ENSP00000467459.1:n.331-2A>G
ENST00000587843.5:c.*384-2A>G	ENSP00000465970.1:n.*384-2A>G
ENST00000588201.5:c.*637-2A>G	ENSP00000466529.1:n.*637-2A>G
ENST00000589543.5:n.603-2A>G
ENST00000591292.5:n.1975-2A>G
ENST00000591392.5:c.574-2A>G	ENSP00000467509.1:n.574-2A>G
ENST00000592019.1:c.77-174A>G
NM_024589.2:c.646-2A>G , LRG_455t1:c.646-2A>G	NP_078865.1:n.646-2A>G
NR_046480.1:n.970-2A>G
XM_006720947.2:c.646-2A>G	XP_006721010.1:n.646-2A>G
XM_006720948.2:c.376-2A>G	XP_006721011.1:n.376-2A>G
XM_006720947.4:c.646-2A>G	XP_006721010.1:n.646-2A>G
XM_006720948.4:c.376-2A>G	XP_006721011.1:n.376-2A>G
NM_024589.3:c.646-2A>G MANE Select	NP_078865.1:n.646-2A>G
NR_046480.2:n.653-2A>G