Canonical Allele Identifier: CA394653281
Community Standard Title: NM_024589.3(ROGDI):c.402C>G (p.Tyr134Ter)
Gene: ROGDI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4799716G>C , CM000678.2:g.4799716G>C GRCh38
NC_000016.9:g.4849717G>C , CM000678.1:g.4849717G>C GRCh37
NC_000016.8:g.4789718G>C NCBI36
NG_032174.1:g.8235C>G , LRG_455:g.8235C>G

Transcript Alleles

HGVS Amino-acid Change
NM_024589.3:c.402C>G MANE Select NP_078865.1:p.Tyr134Ter
ENST00000322048.12:c.402C>G MANE Select ENSP00000322832.6:p.Tyr134Ter
NM_024589.2:c.402C>G , LRG_455t1:c.402C>G NP_078865.1:p.Tyr134Ter
NR_046480.1:n.726C>G
NR_046480.2:n.409C>G
ENST00000322048.11:c.402C>G ENSP00000322832.5:p.Tyr134Ter
ENST00000585653.1:n.534C>G
ENST00000586153.1:c.147C>G ENSP00000464699.1:p.Tyr49Ter
ENST00000586336.5:n.501C>G
ENST00000586504.5:c.182C>G
ENST00000587377.5:c.402C>G ENSP00000468343.1:p.Tyr134Ter
ENST00000587711.5:c.118-1049C>G ENSP00000467459.1:n.118-1049C>G
ENST00000587843.5:c.*140C>G ENSP00000465970.1:n.*140C>G
ENST00000588201.5:c.*259C>G ENSP00000466529.1:n.*259C>G
ENST00000589543.5:n.359C>G
ENST00000591292.5:n.1731C>G
ENST00000591392.5:c.330C>G ENSP00000467509.1:p.Tyr110Ter
ENST00000592019.1:c.76+45C>G
XM_006720947.2:c.402C>G XP_006721010.1:p.Tyr134Ter
XM_006720947.4:c.402C>G XP_006721010.1:p.Tyr134Ter
XM_006720948.2:c.132C>G XP_006721011.1:p.Tyr44Ter
XM_006720948.4:c.132C>G XP_006721011.1:p.Tyr44Ter