Canonical Allele Identifier: CA7882550

Gene: ROGDI

Linked Data

• dbSNP Id: rs776235683
• ExAC: 16:4847939 A / T
• gnomAD v2: 16-4847939-A-T
• gnomAD v4: 16-4797938-A-T
• MyVariant Identifiers: chr16:g.4847939A>T (hg19) ; chr16:g.4797938A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797938A>T , CM000678.2:g.4797938A>T	GRCh38
NC_000016.9:g.4847939A>T , CM000678.1:g.4847939A>T	GRCh37
NC_000016.8:g.4787940A>T	NCBI36
NG_032174.1:g.10013T>A , LRG_455:g.10013T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.695T>A MANE Select	ENSP00000322832.6:p.Phe232Tyr
ENST00000322048.11:c.695T>A	ENSP00000322832.5:p.Phe232Tyr
ENST00000586153.1:c.341T>A	ENSP00000464699.1:p.Phe114Tyr
ENST00000586336.5:n.794T>A
ENST00000586504.5:c.426-98T>A
ENST00000587377.5:c.*15T>A	ENSP00000468343.1:n.*15T>A
ENST00000587711.5:c.380T>A	ENSP00000467459.1:p.Phe127Tyr
ENST00000587843.5:c.*433T>A	ENSP00000465970.1:n.*433T>A
ENST00000588201.5:c.*686T>A	ENSP00000466529.1:n.*686T>A
ENST00000589543.5:n.652T>A
ENST00000591292.5:n.2024T>A
ENST00000591392.5:c.623T>A	ENSP00000467509.1:p.Phe208Tyr
ENST00000592019.1:c.77-123T>A
NM_024589.2:c.695T>A , LRG_455t1:c.695T>A	NP_078865.1:p.Phe232Tyr
NR_046480.1:n.1019T>A
XM_006720947.2:c.695T>A	XP_006721010.1:p.Leu232Ter
XM_006720948.2:c.425T>A	XP_006721011.1:p.Leu142Ter
XM_006720947.4:c.695T>A	XP_006721010.1:p.Leu232Ter
XM_006720948.4:c.425T>A	XP_006721011.1:p.Leu142Ter
NM_024589.3:c.695T>A MANE Select	NP_078865.1:p.Phe232Tyr
NR_046480.2:n.702T>A