Canonical Allele Identifier: CA394649450

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797954-T-C
• MyVariant Identifiers: chr16:g.4847955T>C (hg19) ; chr16:g.4797954T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797954T>C , CM000678.2:g.4797954T>C	GRCh38
NC_000016.9:g.4847955T>C , CM000678.1:g.4847955T>C	GRCh37
NC_000016.8:g.4787956T>C	NCBI36
NG_032174.1:g.9997A>G , LRG_455:g.9997A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.679A>G MANE Select	ENSP00000322832.6:p.Ser227Gly
ENST00000322048.11:c.679A>G	ENSP00000322832.5:p.Ser227Gly
ENST00000586153.1:c.325A>G	ENSP00000464699.1:p.Ser109Gly
ENST00000586336.5:n.778A>G
ENST00000586504.5:c.426-114A>G
ENST00000587377.5:c.692A>G	ENSP00000468343.1:p.Ter231Trp
ENST00000587711.5:c.364A>G	ENSP00000467459.1:p.Ser122Gly
ENST00000587843.5:c.*417A>G	ENSP00000465970.1:n.*417A>G
ENST00000588201.5:c.*670A>G	ENSP00000466529.1:n.*670A>G
ENST00000589543.5:n.636A>G
ENST00000591292.5:n.2008A>G
ENST00000591392.5:c.607A>G	ENSP00000467509.1:p.Ser203Gly
ENST00000592019.1:c.77-139A>G
NM_024589.2:c.679A>G , LRG_455t1:c.679A>G	NP_078865.1:p.Ser227Gly
NR_046480.1:n.1003A>G
XM_006720947.2:c.679A>G	XP_006721010.1:p.Ser227Gly
XM_006720948.2:c.409A>G	XP_006721011.1:p.Ser137Gly
XM_006720947.4:c.679A>G	XP_006721010.1:p.Ser227Gly
XM_006720948.4:c.409A>G	XP_006721011.1:p.Ser137Gly
NM_024589.3:c.679A>G MANE Select	NP_078865.1:p.Ser227Gly
NR_046480.2:n.686A>G