Canonical Allele Identifier: CA277135857

Gene: ROGDI

Linked Data

• dbSNP Id: rs147170560
• MyVariant Identifiers: chr16:g.4847966G>C (hg19) ; chr16:g.4797965G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797965G>C , CM000678.2:g.4797965G>C	GRCh38
NC_000016.9:g.4847966G>C , CM000678.1:g.4847966G>C	GRCh37
NC_000016.8:g.4787967G>C	NCBI36
NG_032174.1:g.9986C>G , LRG_455:g.9986C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.668C>G MANE Select	ENSP00000322832.6:p.Ala223Gly
ENST00000322048.11:c.668C>G	ENSP00000322832.5:p.Ala223Gly
ENST00000586153.1:c.314C>G	ENSP00000464699.1:p.Ala105Gly
ENST00000586336.5:n.767C>G
ENST00000586504.5:c.425+106C>G
ENST00000587377.5:c.681C>G	ENSP00000468343.1:p.Arg227=
ENST00000587711.5:c.353C>G	ENSP00000467459.1:p.Ala118Gly
ENST00000587843.5:c.*406C>G	ENSP00000465970.1:n.*406C>G
ENST00000588201.5:c.*659C>G	ENSP00000466529.1:n.*659C>G
ENST00000589543.5:n.625C>G
ENST00000591292.5:n.1997C>G
ENST00000591392.5:c.596C>G	ENSP00000467509.1:p.Ala199Gly
ENST00000592019.1:c.77-150C>G
NM_024589.2:c.668C>G , LRG_455t1:c.668C>G	NP_078865.1:p.Ala223Gly
NR_046480.1:n.992C>G
XM_006720947.2:c.668C>G	XP_006721010.1:p.Ala223Gly
XM_006720948.2:c.398C>G	XP_006721011.1:p.Ala133Gly
XM_006720947.4:c.668C>G	XP_006721010.1:p.Ala223Gly
XM_006720948.4:c.398C>G	XP_006721011.1:p.Ala133Gly
NM_024589.3:c.668C>G MANE Select	NP_078865.1:p.Ala223Gly
NR_046480.2:n.675C>G