Canonical Allele Identifier: CA394649332

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847940A>C (hg19) ; chr16:g.4797939A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797939A>C , CM000678.2:g.4797939A>C	GRCh38
NC_000016.9:g.4847940A>C , CM000678.1:g.4847940A>C	GRCh37
NC_000016.8:g.4787941A>C	NCBI36
NG_032174.1:g.10012T>G , LRG_455:g.10012T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.694T>G MANE Select	ENSP00000322832.6:p.Phe232Val
ENST00000322048.11:c.694T>G	ENSP00000322832.5:p.Phe232Val
ENST00000586153.1:c.340T>G	ENSP00000464699.1:p.Phe114Val
ENST00000586336.5:n.793T>G
ENST00000586504.5:c.426-99T>G
ENST00000587377.5:c.*14T>G	ENSP00000468343.1:n.*14T>G
ENST00000587711.5:c.379T>G	ENSP00000467459.1:p.Phe127Val
ENST00000587843.5:c.*432T>G	ENSP00000465970.1:n.*432T>G
ENST00000588201.5:c.*685T>G	ENSP00000466529.1:n.*685T>G
ENST00000589543.5:n.651T>G
ENST00000591292.5:n.2023T>G
ENST00000591392.5:c.622T>G	ENSP00000467509.1:p.Phe208Val
ENST00000592019.1:c.77-124T>G
NM_024589.2:c.694T>G , LRG_455t1:c.694T>G	NP_078865.1:p.Phe232Val
NR_046480.1:n.1018T>G
XM_006720947.2:c.694T>G	XP_006721010.1:p.Leu232Val
XM_006720948.2:c.424T>G	XP_006721011.1:p.Leu142Val
XM_006720947.4:c.694T>G	XP_006721010.1:p.Leu232Val
XM_006720948.4:c.424T>G	XP_006721011.1:p.Leu142Val
NM_024589.3:c.694T>G MANE Select	NP_078865.1:p.Phe232Val
NR_046480.2:n.701T>G