Canonical Allele Identifier: CA394653170

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849692G>C (hg19) ; chr16:g.4799691G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799691G>C , CM000678.2:g.4799691G>C	GRCh38
NC_000016.9:g.4849692G>C , CM000678.1:g.4849692G>C	GRCh37
NC_000016.8:g.4789693G>C	NCBI36
NG_032174.1:g.8260C>G , LRG_455:g.8260C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.427C>G MANE Select	ENSP00000322832.6:p.Leu143Val
ENST00000322048.11:c.427C>G	ENSP00000322832.5:p.Leu143Val
ENST00000585653.1:n.559C>G
ENST00000586153.1:c.172C>G	ENSP00000464699.1:p.Leu58Val
ENST00000586336.5:n.526C>G
ENST00000586504.5:c.207C>G
ENST00000587377.5:c.423+4C>G	ENSP00000468343.1:n.423+4C>G
ENST00000587711.5:c.118-1024C>G	ENSP00000467459.1:n.118-1024C>G
ENST00000587843.5:c.*165C>G	ENSP00000465970.1:n.*165C>G
ENST00000588201.5:c.*284C>G	ENSP00000466529.1:n.*284C>G
ENST00000589543.5:n.384C>G
ENST00000591292.5:n.1756C>G
ENST00000591392.5:c.355C>G	ENSP00000467509.1:p.Leu119Val
ENST00000592019.1:c.76+70C>G
NM_024589.2:c.427C>G , LRG_455t1:c.427C>G	NP_078865.1:p.Leu143Val
NR_046480.1:n.751C>G
XM_006720947.2:c.427C>G	XP_006721010.1:p.Leu143Val
XM_006720948.2:c.157C>G	XP_006721011.1:p.Leu53Val
XM_006720947.4:c.427C>G	XP_006721010.1:p.Leu143Val
XM_006720948.4:c.157C>G	XP_006721011.1:p.Leu53Val
NM_024589.3:c.427C>G MANE Select	NP_078865.1:p.Leu143Val
NR_046480.2:n.434C>G