Canonical Allele Identifier: CA7882559

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 582170
• ClinVar RCV Id: RCV000706169
• dbSNP Id: rs756917973
• ExAC: 16:4847967 C / A
• gnomAD v2: 16-4847967-C-A
• gnomAD v3: 16-4797966-C-A
• gnomAD v4: 16-4797966-C-A
• MyVariant Identifiers: chr16:g.4847967C>A (hg19) ; chr16:g.4797966C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797966C>A , CM000678.2:g.4797966C>A	GRCh38
NC_000016.9:g.4847967C>A , CM000678.1:g.4847967C>A	GRCh37
NC_000016.8:g.4787968C>A	NCBI36
NG_032174.1:g.9985G>T , LRG_455:g.9985G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.667G>T MANE Select	ENSP00000322832.6:p.Ala223Ser
ENST00000322048.11:c.667G>T	ENSP00000322832.5:p.Ala223Ser
ENST00000586153.1:c.313G>T	ENSP00000464699.1:p.Ala105Ser
ENST00000586336.5:n.766G>T
ENST00000586504.5:c.425+105G>T
ENST00000587377.5:c.680G>T	ENSP00000468343.1:p.Arg227Leu
ENST00000587711.5:c.352G>T	ENSP00000467459.1:p.Ala118Ser
ENST00000587843.5:c.*405G>T	ENSP00000465970.1:n.*405G>T
ENST00000588201.5:c.*658G>T	ENSP00000466529.1:n.*658G>T
ENST00000589543.5:n.624G>T
ENST00000591292.5:n.1996G>T
ENST00000591392.5:c.595G>T	ENSP00000467509.1:p.Ala199Ser
ENST00000592019.1:c.77-151G>T
NM_024589.2:c.667G>T , LRG_455t1:c.667G>T	NP_078865.1:p.Ala223Ser
NR_046480.1:n.991G>T
XM_006720947.2:c.667G>T	XP_006721010.1:p.Ala223Ser
XM_006720948.2:c.397G>T	XP_006721011.1:p.Ala133Ser
XM_006720947.4:c.667G>T	XP_006721010.1:p.Ala223Ser
XM_006720948.4:c.397G>T	XP_006721011.1:p.Ala133Ser
NM_024589.3:c.667G>T MANE Select	NP_078865.1:p.Ala223Ser
NR_046480.2:n.674G>T