Canonical Allele Identifier: CA394649695

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847985A>T (hg19) ; chr16:g.4797984A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797984A>T , CM000678.2:g.4797984A>T	GRCh38
NC_000016.9:g.4847985A>T , CM000678.1:g.4847985A>T	GRCh37
NC_000016.8:g.4787986A>T	NCBI36
NG_032174.1:g.9967T>A , LRG_455:g.9967T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.649T>A MANE Select	ENSP00000322832.6:p.Phe217Ile
ENST00000322048.11:c.649T>A	ENSP00000322832.5:p.Phe217Ile
ENST00000586153.1:c.295T>A	ENSP00000464699.1:p.Phe99Ile
ENST00000586336.5:n.748T>A
ENST00000586504.5:c.425+87T>A
ENST00000587377.5:c.662T>A	ENSP00000468343.1:p.Leu221His
ENST00000587711.5:c.334T>A	ENSP00000467459.1:p.Phe112Ile
ENST00000587843.5:c.*387T>A	ENSP00000465970.1:n.*387T>A
ENST00000588201.5:c.*640T>A	ENSP00000466529.1:n.*640T>A
ENST00000589543.5:n.606T>A
ENST00000591292.5:n.1978T>A
ENST00000591392.5:c.577T>A	ENSP00000467509.1:p.Phe193Ile
ENST00000592019.1:c.77-169T>A
NM_024589.2:c.649T>A , LRG_455t1:c.649T>A	NP_078865.1:p.Phe217Ile
NR_046480.1:n.973T>A
XM_006720947.2:c.649T>A	XP_006721010.1:p.Phe217Ile
XM_006720948.2:c.379T>A	XP_006721011.1:p.Phe127Ile
XM_006720947.4:c.649T>A	XP_006721010.1:p.Phe217Ile
XM_006720948.4:c.379T>A	XP_006721011.1:p.Phe127Ile
NM_024589.3:c.649T>A MANE Select	NP_078865.1:p.Phe217Ile
NR_046480.2:n.656T>A