Canonical Allele Identifier: CA394650101

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 1398516
• ClinVar RCV Id: RCV001922583
• dbSNP Id: rs1384897869
• gnomAD v2: 16-4848101-G-C
• gnomAD v4: 16-4798100-G-C
• MyVariant Identifiers: chr16:g.4848101G>C (hg19) ; chr16:g.4798100G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798100G>C , CM000678.2:g.4798100G>C	GRCh38
NC_000016.9:g.4848101G>C , CM000678.1:g.4848101G>C	GRCh37
NC_000016.8:g.4788102G>C	NCBI36
NG_032174.1:g.9851C>G , LRG_455:g.9851C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.616C>G MANE Select	ENSP00000322832.6:p.Leu206Val
ENST00000322048.11:c.616C>G	ENSP00000322832.5:p.Leu206Val
ENST00000586153.1:c.262C>G	ENSP00000464699.1:p.Leu88Val
ENST00000586336.5:n.715C>G
ENST00000586504.5:c.396C>G
ENST00000587377.5:c.629C>G	ENSP00000468343.1:p.Ala210Gly
ENST00000587711.5:c.301C>G	ENSP00000467459.1:p.Leu101Val
ENST00000587843.5:c.*354C>G	ENSP00000465970.1:n.*354C>G
ENST00000588201.5:c.*607C>G	ENSP00000466529.1:n.*607C>G
ENST00000589543.5:n.573C>G
ENST00000591292.5:n.1945C>G
ENST00000591392.5:c.544C>G	ENSP00000467509.1:p.Leu182Val
ENST00000592019.1:c.77-285C>G
NM_024589.2:c.616C>G , LRG_455t1:c.616C>G	NP_078865.1:p.Leu206Val
NR_046480.1:n.940C>G
XM_006720947.2:c.616C>G	XP_006721010.1:p.Leu206Val
XM_006720948.2:c.346C>G	XP_006721011.1:p.Leu116Val
XM_006720947.4:c.616C>G	XP_006721010.1:p.Leu206Val
XM_006720948.4:c.346C>G	XP_006721011.1:p.Leu116Val
NM_024589.3:c.616C>G MANE Select	NP_078865.1:p.Leu206Val
NR_046480.2:n.623C>G