Canonical Allele Identifier: CA394649427

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847953G>C (hg19) ; chr16:g.4797952G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797952G>C , CM000678.2:g.4797952G>C	GRCh38
NC_000016.9:g.4847953G>C , CM000678.1:g.4847953G>C	GRCh37
NC_000016.8:g.4787954G>C	NCBI36
NG_032174.1:g.9999C>G , LRG_455:g.9999C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.681C>G MANE Select	ENSP00000322832.6:p.Ser227Arg
ENST00000322048.11:c.681C>G	ENSP00000322832.5:p.Ser227Arg
ENST00000586153.1:c.327C>G	ENSP00000464699.1:p.Ser109Arg
ENST00000586336.5:n.780C>G
ENST00000586504.5:c.426-112C>G
ENST00000587377.5:c.*1C>G	ENSP00000468343.1:n.*1C>G
ENST00000587711.5:c.366C>G	ENSP00000467459.1:p.Ser122Arg
ENST00000587843.5:c.*419C>G	ENSP00000465970.1:n.*419C>G
ENST00000588201.5:c.*672C>G	ENSP00000466529.1:n.*672C>G
ENST00000589543.5:n.638C>G
ENST00000591292.5:n.2010C>G
ENST00000591392.5:c.609C>G	ENSP00000467509.1:p.Ser203Arg
ENST00000592019.1:c.77-137C>G
NM_024589.2:c.681C>G , LRG_455t1:c.681C>G	NP_078865.1:p.Ser227Arg
NR_046480.1:n.1005C>G
XM_006720947.2:c.681C>G	XP_006721010.1:p.Ser227Arg
XM_006720948.2:c.411C>G	XP_006721011.1:p.Ser137Arg
XM_006720947.4:c.681C>G	XP_006721010.1:p.Ser227Arg
XM_006720948.4:c.411C>G	XP_006721011.1:p.Ser137Arg
NM_024589.3:c.681C>G MANE Select	NP_078865.1:p.Ser227Arg
NR_046480.2:n.688C>G