Canonical Allele Identifier: CA394653523
Gene: ROGDI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4799755G>C , CM000678.2:g.4799755G>C GRCh38
NC_000016.9:g.4849756G>C , CM000678.1:g.4849756G>C GRCh37
NC_000016.8:g.4789757G>C NCBI36
NG_032174.1:g.8196C>G , LRG_455:g.8196C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.363C>G MANE Select ENSP00000322832.6:p.Ser121Arg
ENST00000322048.11:c.363C>G ENSP00000322832.5:p.Ser121Arg
ENST00000585653.1:n.495C>G
ENST00000586153.1:c.108C>G ENSP00000464699.1:p.Ser36Arg
ENST00000586336.5:n.462C>G
ENST00000586504.5:c.143C>G
ENST00000587377.5:c.363C>G ENSP00000468343.1:p.Ser121Arg
ENST00000587711.5:c.118-1088C>G ENSP00000467459.1:n.118-1088C>G
ENST00000587843.5:c.*101C>G ENSP00000465970.1:n.*101C>G
ENST00000588201.5:c.*220C>G ENSP00000466529.1:n.*220C>G
ENST00000589543.5:n.320C>G
ENST00000591292.5:n.1692C>G
ENST00000591392.5:c.291C>G ENSP00000467509.1:p.Ser97Arg
ENST00000592019.1:c.76+6C>G
NM_024589.2:c.363C>G , LRG_455t1:c.363C>G NP_078865.1:p.Ser121Arg
NR_046480.1:n.687C>G
XM_006720947.2:c.363C>G XP_006721010.1:p.Ser121Arg
XM_006720948.2:c.93C>G XP_006721011.1:p.Ser31Arg
XM_006720947.4:c.363C>G XP_006721010.1:p.Ser121Arg
XM_006720948.4:c.93C>G XP_006721011.1:p.Ser31Arg
NM_024589.3:c.363C>G MANE Select NP_078865.1:p.Ser121Arg
NR_046480.2:n.370C>G