Canonical Allele Identifier: CA394649683

Gene: ROGDI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.650T>G MANE Select	ENSP00000322832.6:p.Phe217Cys
ENST00000322048.11:c.650T>G	ENSP00000322832.5:p.Phe217Cys
ENST00000586153.1:c.296T>G	ENSP00000464699.1:p.Phe99Cys
ENST00000586336.5:n.749T>G
ENST00000586504.5:c.425+88T>G
ENST00000587377.5:c.663T>G	ENSP00000468343.1:p.Leu221=
ENST00000587711.5:c.335T>G	ENSP00000467459.1:p.Phe112Cys
ENST00000587843.5:c.*388T>G	ENSP00000465970.1:n.*388T>G
ENST00000588201.5:c.*641T>G	ENSP00000466529.1:n.*641T>G
ENST00000589543.5:n.607T>G
ENST00000591292.5:n.1979T>G
ENST00000591392.5:c.578T>G	ENSP00000467509.1:p.Phe193Cys
ENST00000592019.1:c.77-168T>G
NM_024589.2:c.650T>G , LRG_455t1:c.650T>G	NP_078865.1:p.Phe217Cys
NR_046480.1:n.974T>G
XM_006720947.2:c.650T>G	XP_006721010.1:p.Phe217Cys
XM_006720948.2:c.380T>G	XP_006721011.1:p.Phe127Cys
XM_006720947.4:c.650T>G	XP_006721010.1:p.Phe217Cys
XM_006720948.4:c.380T>G	XP_006721011.1:p.Phe127Cys
NM_024589.3:c.650T>G MANE Select	NP_078865.1:p.Phe217Cys
NR_046480.2:n.657T>G