Canonical Allele Identifier: CA493404689

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847950A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797949A>C , CM000678.2:g.4797949A>C	GRCh38
NC_000016.9:g.4847950A>C , CM000678.1:g.4847950A>C	GRCh37
NC_000016.8:g.4787951A>C	NCBI36
NG_032174.1:g.10002T>G , LRG_455:g.10002T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.684T>G MANE Select	ENSP00000322832.6:p.Pro228=
ENST00000322048.11:c.684T>G	ENSP00000322832.5:p.Pro228=
ENST00000586153.1:c.330T>G	ENSP00000464699.1:p.Pro110=
ENST00000586336.5:n.783T>G
ENST00000586504.5:c.426-109T>G
ENST00000587377.5:c.*4T>G	ENSP00000468343.1:n.*4T>G
ENST00000587711.5:c.369T>G	ENSP00000467459.1:p.Pro123=
ENST00000587843.5:c.*422T>G	ENSP00000465970.1:n.*422T>G
ENST00000588201.5:c.*675T>G	ENSP00000466529.1:n.*675T>G
ENST00000589543.5:n.641T>G
ENST00000591292.5:n.2013T>G
ENST00000591392.5:c.612T>G	ENSP00000467509.1:p.Pro204=
ENST00000592019.1:c.77-134T>G
NM_024589.2:c.684T>G , LRG_455t1:c.684T>G	NP_078865.1:p.Pro228=
NR_046480.1:n.1008T>G
XM_006720947.2:c.684T>G	XP_006721010.1:p.Pro228=
XM_006720948.2:c.414T>G	XP_006721011.1:p.Pro138=
XM_006720947.4:c.684T>G	XP_006721010.1:p.Pro228=
XM_006720948.4:c.414T>G	XP_006721011.1:p.Pro138=
NM_024589.3:c.684T>G MANE Select	NP_078865.1:p.Pro228=
NR_046480.2:n.691T>G