Canonical Allele Identifier: CA394649881

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4798078-G-C
• MyVariant Identifiers: chr16:g.4848079G>C (hg19) ; chr16:g.4798078G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798078G>C , CM000678.2:g.4798078G>C	GRCh38
NC_000016.9:g.4848079G>C , CM000678.1:g.4848079G>C	GRCh37
NC_000016.8:g.4788080G>C	NCBI36
NG_032174.1:g.9873C>G , LRG_455:g.9873C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.638C>G MANE Select	ENSP00000322832.6:p.Ser213Cys
ENST00000322048.11:c.638C>G	ENSP00000322832.5:p.Ser213Cys
ENST00000586153.1:c.284C>G	ENSP00000464699.1:p.Ser95Cys
ENST00000586336.5:n.737C>G
ENST00000586504.5:c.418C>G
ENST00000587377.5:c.651C>G	ENSP00000468343.1:p.Leu217=
ENST00000587711.5:c.323C>G	ENSP00000467459.1:p.Ser108Cys
ENST00000587843.5:c.*376C>G	ENSP00000465970.1:n.*376C>G
ENST00000588201.5:c.*629C>G	ENSP00000466529.1:n.*629C>G
ENST00000589543.5:n.595C>G
ENST00000591292.5:n.1967C>G
ENST00000591392.5:c.566C>G	ENSP00000467509.1:p.Ser189Cys
ENST00000592019.1:c.77-263C>G
NM_024589.2:c.638C>G , LRG_455t1:c.638C>G	NP_078865.1:p.Ser213Cys
NR_046480.1:n.962C>G
XM_006720947.2:c.638C>G	XP_006721010.1:p.Ser213Cys
XM_006720948.2:c.368C>G	XP_006721011.1:p.Ser123Cys
XM_006720947.4:c.638C>G	XP_006721010.1:p.Ser213Cys
XM_006720948.4:c.368C>G	XP_006721011.1:p.Ser123Cys
NM_024589.3:c.638C>G MANE Select	NP_078865.1:p.Ser213Cys
NR_046480.2:n.645C>G