Canonical Allele Identifier: CA7882745

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 1408883
• ClinVar RCV Id: RCV001909613
• dbSNP Id: rs146815588
• ExAC: 16:4849701 C / T
• gnomAD v2: 16-4849701-C-T
• gnomAD v3: 16-4799700-C-T
• gnomAD v4: 16-4799700-C-T
• MyVariant Identifiers: chr16:g.4849701C>T (hg19) ; chr16:g.4799700C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799700C>T , CM000678.2:g.4799700C>T	GRCh38
NC_000016.9:g.4849701C>T , CM000678.1:g.4849701C>T	GRCh37
NC_000016.8:g.4789702C>T	NCBI36
NG_032174.1:g.8251G>A , LRG_455:g.8251G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.418G>A MANE Select	ENSP00000322832.6:p.Ala140Thr
ENST00000322048.11:c.418G>A	ENSP00000322832.5:p.Ala140Thr
ENST00000585653.1:n.550G>A
ENST00000586153.1:c.163G>A	ENSP00000464699.1:p.Ala55Thr
ENST00000586336.5:n.517G>A
ENST00000586504.5:c.198G>A
ENST00000587377.5:c.418G>A	ENSP00000468343.1:p.Ala140Thr
ENST00000587711.5:c.118-1033G>A	ENSP00000467459.1:n.118-1033G>A
ENST00000587843.5:c.*156G>A	ENSP00000465970.1:n.*156G>A
ENST00000588201.5:c.*275G>A	ENSP00000466529.1:n.*275G>A
ENST00000589543.5:n.375G>A
ENST00000591292.5:n.1747G>A
ENST00000591392.5:c.346G>A	ENSP00000467509.1:p.Ala116Thr
ENST00000592019.1:c.76+61G>A
NM_024589.2:c.418G>A , LRG_455t1:c.418G>A	NP_078865.1:p.Ala140Thr
NR_046480.1:n.742G>A
XM_006720947.2:c.418G>A	XP_006721010.1:p.Ala140Thr
XM_006720948.2:c.148G>A	XP_006721011.1:p.Ala50Thr
XM_006720947.4:c.418G>A	XP_006721010.1:p.Ala140Thr
XM_006720948.4:c.148G>A	XP_006721011.1:p.Ala50Thr
NM_024589.3:c.418G>A MANE Select	NP_078865.1:p.Ala140Thr
NR_046480.2:n.425G>A