Canonical Allele Identifier: CA394649458

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847956A>C (hg19) ; chr16:g.4797955A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797955A>C , CM000678.2:g.4797955A>C	GRCh38
NC_000016.9:g.4847956A>C , CM000678.1:g.4847956A>C	GRCh37
NC_000016.8:g.4787957A>C	NCBI36
NG_032174.1:g.9996T>G , LRG_455:g.9996T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.678T>G MANE Select	ENSP00000322832.6:p.His226Gln
ENST00000322048.11:c.678T>G	ENSP00000322832.5:p.His226Gln
ENST00000586153.1:c.324T>G	ENSP00000464699.1:p.His108Gln
ENST00000586336.5:n.777T>G
ENST00000586504.5:c.426-115T>G
ENST00000587377.5:c.691T>G	ENSP00000468343.1:p.Ter231Glu
ENST00000587711.5:c.363T>G	ENSP00000467459.1:p.His121Gln
ENST00000587843.5:c.*416T>G	ENSP00000465970.1:n.*416T>G
ENST00000588201.5:c.*669T>G	ENSP00000466529.1:n.*669T>G
ENST00000589543.5:n.635T>G
ENST00000591292.5:n.2007T>G
ENST00000591392.5:c.606T>G	ENSP00000467509.1:p.His202Gln
ENST00000592019.1:c.77-140T>G
NM_024589.2:c.678T>G , LRG_455t1:c.678T>G	NP_078865.1:p.His226Gln
NR_046480.1:n.1002T>G
XM_006720947.2:c.678T>G	XP_006721010.1:p.His226Gln
XM_006720948.2:c.408T>G	XP_006721011.1:p.His136Gln
XM_006720947.4:c.678T>G	XP_006721010.1:p.His226Gln
XM_006720948.4:c.408T>G	XP_006721011.1:p.His136Gln
NM_024589.3:c.678T>G MANE Select	NP_078865.1:p.His226Gln
NR_046480.2:n.685T>G