Canonical Allele Identifier: CA394655379
Community Standard Title: NM_024589.3(ROGDI):c.149C>G (p.Ser50Cys)
Gene: ROGDI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4801554G>C , CM000678.2:g.4801554G>C GRCh38
NC_000016.9:g.4851555G>C , CM000678.1:g.4851555G>C GRCh37
NC_000016.8:g.4791556G>C NCBI36
NG_032174.1:g.6397C>G , LRG_455:g.6397C>G

Transcript Alleles

HGVS Amino-acid Change
NM_024589.3:c.149C>G MANE Select NP_078865.1:p.Ser50Cys
ENST00000322048.12:c.149C>G MANE Select ENSP00000322832.6:p.Ser50Cys
NM_024589.2:c.149C>G , LRG_455t1:c.149C>G NP_078865.1:p.Ser50Cys
NR_046480.1:n.528C>G
NR_046480.2:n.211C>G
ENST00000322048.11:c.149C>G ENSP00000322832.5:p.Ser50Cys
ENST00000585653.1:n.281C>G
ENST00000585871.1:n.458C>G
ENST00000586336.5:n.303C>G
ENST00000587377.5:c.149C>G ENSP00000468343.1:p.Ser50Cys
ENST00000587711.5:c.117+828C>G ENSP00000467459.1:n.117+828C>G
ENST00000587843.5:c.149C>G ENSP00000465970.1:p.Ser50Cys
ENST00000588201.5:c.149C>G ENSP00000466529.1:p.Ser50Cys
ENST00000589543.5:n.106C>G
ENST00000590198.1:n.316C>G
ENST00000591292.5:n.609C>G
ENST00000591392.5:c.77C>G ENSP00000467509.1:p.Ser26Cys
XM_006720947.2:c.149C>G XP_006721010.1:p.Ser50Cys
XM_006720947.4:c.149C>G XP_006721010.1:p.Ser50Cys
XM_006720948.2:c.-67C>G XP_006721011.1:n.-67C>G
XM_006720948.4:c.-67C>G XP_006721011.1:n.-67C>G