Canonical Allele Identifier: CA7882615

Gene: ROGDI

Linked Data

• dbSNP Id: rs780059442
• ExAC: 16:4848104 G / C
• gnomAD v2: 16-4848104-G-C
• gnomAD v3: 16-4798103-G-C
• gnomAD v4: 16-4798103-G-C
• MyVariant Identifiers: chr16:g.4848104G>C (hg19) ; chr16:g.4798103G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798103G>C , CM000678.2:g.4798103G>C	GRCh38
NC_000016.9:g.4848104G>C , CM000678.1:g.4848104G>C	GRCh37
NC_000016.8:g.4788105G>C	NCBI36
NG_032174.1:g.9848C>G , LRG_455:g.9848C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.613C>G MANE Select	ENSP00000322832.6:p.Gln205Glu
ENST00000322048.11:c.613C>G	ENSP00000322832.5:p.Gln205Glu
ENST00000586153.1:c.259C>G	ENSP00000464699.1:p.Gln87Glu
ENST00000586336.5:n.712C>G
ENST00000586504.5:c.393C>G
ENST00000587377.5:c.626C>G	ENSP00000468343.1:p.Pro209Arg
ENST00000587711.5:c.298C>G	ENSP00000467459.1:p.Gln100Glu
ENST00000587843.5:c.*351C>G	ENSP00000465970.1:n.*351C>G
ENST00000588201.5:c.*604C>G	ENSP00000466529.1:n.*604C>G
ENST00000589543.5:n.570C>G
ENST00000591292.5:n.1942C>G
ENST00000591392.5:c.541C>G	ENSP00000467509.1:p.Gln181Glu
ENST00000592019.1:c.77-288C>G
NM_024589.2:c.613C>G , LRG_455t1:c.613C>G	NP_078865.1:p.Gln205Glu
NR_046480.1:n.937C>G
XM_006720947.2:c.613C>G	XP_006721010.1:p.Gln205Glu
XM_006720948.2:c.343C>G	XP_006721011.1:p.Gln115Glu
XM_006720947.4:c.613C>G	XP_006721010.1:p.Gln205Glu
XM_006720948.4:c.343C>G	XP_006721011.1:p.Gln115Glu
NM_024589.3:c.613C>G MANE Select	NP_078865.1:p.Gln205Glu
NR_046480.2:n.620C>G