Canonical Allele Identifier: CA493404723

Gene: ROGDI

Linked Data

• dbSNP Id: rs1441321224
• gnomAD v2: 16-4847971-C-G
• gnomAD v4: 16-4797970-C-G
• MyVariant Identifiers: chr16:g.4847971C>G (hg19) ; chr16:g.4797970C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797970C>G , CM000678.2:g.4797970C>G	GRCh38
NC_000016.9:g.4847971C>G , CM000678.1:g.4847971C>G	GRCh37
NC_000016.8:g.4787972C>G	NCBI36
NG_032174.1:g.9981G>C , LRG_455:g.9981G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.663G>C MANE Select	ENSP00000322832.6:p.Gly221=
ENST00000322048.11:c.663G>C	ENSP00000322832.5:p.Gly221=
ENST00000586153.1:c.309G>C	ENSP00000464699.1:p.Gly103=
ENST00000586336.5:n.762G>C
ENST00000586504.5:c.425+101G>C
ENST00000587377.5:c.676G>C	ENSP00000468343.1:p.Gly226Arg
ENST00000587711.5:c.348G>C	ENSP00000467459.1:p.Gly116=
ENST00000587843.5:c.*401G>C	ENSP00000465970.1:n.*401G>C
ENST00000588201.5:c.*654G>C	ENSP00000466529.1:n.*654G>C
ENST00000589543.5:n.620G>C
ENST00000591292.5:n.1992G>C
ENST00000591392.5:c.591G>C	ENSP00000467509.1:p.Gly197=
ENST00000592019.1:c.77-155G>C
NM_024589.2:c.663G>C , LRG_455t1:c.663G>C	NP_078865.1:p.Gly221=
NR_046480.1:n.987G>C
XM_006720947.2:c.663G>C	XP_006721010.1:p.Gly221=
XM_006720948.2:c.393G>C	XP_006721011.1:p.Gly131=
XM_006720947.4:c.663G>C	XP_006721010.1:p.Gly221=
XM_006720948.4:c.393G>C	XP_006721011.1:p.Gly131=
NM_024589.3:c.663G>C MANE Select	NP_078865.1:p.Gly221=
NR_046480.2:n.670G>C