Canonical Allele Identifier: CA394649689

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847984A>T (hg19) ; chr16:g.4797983A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797983A>T , CM000678.2:g.4797983A>T	GRCh38
NC_000016.9:g.4847984A>T , CM000678.1:g.4847984A>T	GRCh37
NC_000016.8:g.4787985A>T	NCBI36
NG_032174.1:g.9968T>A , LRG_455:g.9968T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.650T>A MANE Select	ENSP00000322832.6:p.Phe217Tyr
ENST00000322048.11:c.650T>A	ENSP00000322832.5:p.Phe217Tyr
ENST00000586153.1:c.296T>A	ENSP00000464699.1:p.Phe99Tyr
ENST00000586336.5:n.749T>A
ENST00000586504.5:c.425+88T>A
ENST00000587377.5:c.663T>A	ENSP00000468343.1:p.Leu221=
ENST00000587711.5:c.335T>A	ENSP00000467459.1:p.Phe112Tyr
ENST00000587843.5:c.*388T>A	ENSP00000465970.1:n.*388T>A
ENST00000588201.5:c.*641T>A	ENSP00000466529.1:n.*641T>A
ENST00000589543.5:n.607T>A
ENST00000591292.5:n.1979T>A
ENST00000591392.5:c.578T>A	ENSP00000467509.1:p.Phe193Tyr
ENST00000592019.1:c.77-168T>A
NM_024589.2:c.650T>A , LRG_455t1:c.650T>A	NP_078865.1:p.Phe217Tyr
NR_046480.1:n.974T>A
XM_006720947.2:c.650T>A	XP_006721010.1:p.Phe217Tyr
XM_006720948.2:c.380T>A	XP_006721011.1:p.Phe127Tyr
XM_006720947.4:c.650T>A	XP_006721010.1:p.Phe217Tyr
XM_006720948.4:c.380T>A	XP_006721011.1:p.Phe127Tyr
NM_024589.3:c.650T>A MANE Select	NP_078865.1:p.Phe217Tyr
NR_046480.2:n.657T>A