Canonical Allele Identifier: CA7882553

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 530800
• ClinVar RCV Id: RCV001513533
• dbSNP Id: rs549672547
• ExAC: 16:4847956 A / G
• gnomAD v2: 16-4847956-A-G
• gnomAD v3: 16-4797955-A-G
• gnomAD v4: 16-4797955-A-G
• MyVariant Identifiers: chr16:g.4847956A>G (hg19) ; chr16:g.4797955A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.678T>C MANE Select	ENSP00000322832.6:p.His226=
ENST00000322048.11:c.678T>C	ENSP00000322832.5:p.His226=
ENST00000586153.1:c.324T>C	ENSP00000464699.1:p.His108=
ENST00000586336.5:n.777T>C
ENST00000586504.5:c.426-115T>C
ENST00000587377.5:c.691T>C	ENSP00000468343.1:p.Ter231Gln
ENST00000587711.5:c.363T>C	ENSP00000467459.1:p.His121=
ENST00000587843.5:c.*416T>C	ENSP00000465970.1:n.*416T>C
ENST00000588201.5:c.*669T>C	ENSP00000466529.1:n.*669T>C
ENST00000589543.5:n.635T>C
ENST00000591292.5:n.2007T>C
ENST00000591392.5:c.606T>C	ENSP00000467509.1:p.His202=
ENST00000592019.1:c.77-140T>C
NM_024589.2:c.678T>C , LRG_455t1:c.678T>C	NP_078865.1:p.His226=
NR_046480.1:n.1002T>C
XM_006720947.2:c.678T>C	XP_006721010.1:p.His226=
XM_006720948.2:c.408T>C	XP_006721011.1:p.His136=
XM_006720947.4:c.678T>C	XP_006721010.1:p.His226=
XM_006720948.4:c.408T>C	XP_006721011.1:p.His136=
NM_024589.3:c.678T>C MANE Select	NP_078865.1:p.His226=
NR_046480.2:n.685T>C