Canonical Allele Identifier: CA7882608

Gene: ROGDI

Linked Data

• dbSNP Id: rs777715137
• ExAC: 16:4848083 T / C
• gnomAD v2: 16-4848083-T-C
• MyVariant Identifiers: chr16:g.4848083T>C (hg19) ; chr16:g.4798082T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798082T>C , CM000678.2:g.4798082T>C	GRCh38
NC_000016.9:g.4848083T>C , CM000678.1:g.4848083T>C	GRCh37
NC_000016.8:g.4788084T>C	NCBI36
NG_032174.1:g.9869A>G , LRG_455:g.9869A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.634A>G MANE Select	ENSP00000322832.6:p.Asn212Asp
ENST00000322048.11:c.634A>G	ENSP00000322832.5:p.Asn212Asp
ENST00000586153.1:c.280A>G	ENSP00000464699.1:p.Asn94Asp
ENST00000586336.5:n.733A>G
ENST00000586504.5:c.414A>G
ENST00000587377.5:c.647A>G	ENSP00000468343.1:p.Gln216Arg
ENST00000587711.5:c.319A>G	ENSP00000467459.1:p.Asn107Asp
ENST00000587843.5:c.*372A>G	ENSP00000465970.1:n.*372A>G
ENST00000588201.5:c.*625A>G	ENSP00000466529.1:n.*625A>G
ENST00000589543.5:n.591A>G
ENST00000591292.5:n.1963A>G
ENST00000591392.5:c.562A>G	ENSP00000467509.1:p.Asn188Asp
ENST00000592019.1:c.77-267A>G
NM_024589.2:c.634A>G , LRG_455t1:c.634A>G	NP_078865.1:p.Asn212Asp
NR_046480.1:n.958A>G
XM_006720947.2:c.634A>G	XP_006721010.1:p.Asn212Asp
XM_006720948.2:c.364A>G	XP_006721011.1:p.Asn122Asp
XM_006720947.4:c.634A>G	XP_006721010.1:p.Asn212Asp
XM_006720948.4:c.364A>G	XP_006721011.1:p.Asn122Asp
NM_024589.3:c.634A>G MANE Select	NP_078865.1:p.Asn212Asp
NR_046480.2:n.641A>G