Canonical Allele Identifier: CA7882758

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 530798
• ClinVar RCV Id: RCV000636835 ; RCV004025482
• dbSNP Id: rs374603311
• ExAC: 16:4849730 C / T
• gnomAD v2: 16-4849730-C-T
• gnomAD v3: 16-4799729-C-T
• gnomAD v4: 16-4799729-C-T
• MyVariant Identifiers: chr16:g.4849730C>T (hg19) ; chr16:g.4799729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799729C>T , CM000678.2:g.4799729C>T	GRCh38
NC_000016.9:g.4849730C>T , CM000678.1:g.4849730C>T	GRCh37
NC_000016.8:g.4789731C>T	NCBI36
NG_032174.1:g.8222G>A , LRG_455:g.8222G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.389G>A MANE Select	ENSP00000322832.6:p.Arg130Gln
ENST00000322048.11:c.389G>A	ENSP00000322832.5:p.Arg130Gln
ENST00000585653.1:n.521G>A
ENST00000586153.1:c.134G>A	ENSP00000464699.1:p.Arg45Gln
ENST00000586336.5:n.488G>A
ENST00000586504.5:c.169G>A
ENST00000587377.5:c.389G>A	ENSP00000468343.1:p.Arg130Gln
ENST00000587711.5:c.118-1062G>A	ENSP00000467459.1:n.118-1062G>A
ENST00000587843.5:c.*127G>A	ENSP00000465970.1:n.*127G>A
ENST00000588201.5:c.*246G>A	ENSP00000466529.1:n.*246G>A
ENST00000589543.5:n.346G>A
ENST00000591292.5:n.1718G>A
ENST00000591392.5:c.317G>A	ENSP00000467509.1:p.Arg106Gln
ENST00000592019.1:c.76+32G>A
NM_024589.2:c.389G>A , LRG_455t1:c.389G>A	NP_078865.1:p.Arg130Gln
NR_046480.1:n.713G>A
XM_006720947.2:c.389G>A	XP_006721010.1:p.Arg130Gln
XM_006720948.2:c.119G>A	XP_006721011.1:p.Arg40Gln
XM_006720947.4:c.389G>A	XP_006721010.1:p.Arg130Gln
XM_006720948.4:c.119G>A	XP_006721011.1:p.Arg40Gln
NM_024589.3:c.389G>A MANE Select	NP_078865.1:p.Arg130Gln
NR_046480.2:n.396G>A