Canonical Allele Identifier: CA394650839

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848178A>C (hg19) ; chr16:g.4798177A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798177A>C , CM000678.2:g.4798177A>C	GRCh38
NC_000016.9:g.4848178A>C , CM000678.1:g.4848178A>C	GRCh37
NC_000016.8:g.4788179A>C	NCBI36
NG_032174.1:g.9774T>G , LRG_455:g.9774T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.539T>G MANE Select	ENSP00000322832.6:p.Phe180Cys
ENST00000322048.11:c.539T>G	ENSP00000322832.5:p.Phe180Cys
ENST00000586153.1:c.185T>G	ENSP00000464699.1:p.Phe62Cys
ENST00000586336.5:n.638T>G
ENST00000586504.5:c.319T>G
ENST00000587377.5:c.552T>G	ENSP00000468343.1:p.Val184=
ENST00000587711.5:c.224T>G	ENSP00000467459.1:p.Phe75Cys
ENST00000587843.5:c.*277T>G	ENSP00000465970.1:n.*277T>G
ENST00000588201.5:c.*530T>G	ENSP00000466529.1:n.*530T>G
ENST00000589543.5:n.496T>G
ENST00000591292.5:n.1868T>G
ENST00000591392.5:c.467T>G	ENSP00000467509.1:p.Phe156Cys
ENST00000592019.1:c.77-362T>G
NM_024589.2:c.539T>G , LRG_455t1:c.539T>G	NP_078865.1:p.Phe180Cys
NR_046480.1:n.863T>G
XM_006720947.2:c.539T>G	XP_006721010.1:p.Phe180Cys
XM_006720948.2:c.269T>G	XP_006721011.1:p.Phe90Cys
XM_006720947.4:c.539T>G	XP_006721010.1:p.Phe180Cys
XM_006720948.4:c.269T>G	XP_006721011.1:p.Phe90Cys
NM_024589.3:c.539T>G MANE Select	NP_078865.1:p.Phe180Cys
NR_046480.2:n.546T>G