Canonical Allele Identifier: CA493320316
Gene: ROGDI HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.4849702G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4799701G>T , CM000678.2:g.4799701G>T GRCh38
NC_000016.9:g.4849702G>T , CM000678.1:g.4849702G>T GRCh37
NC_000016.8:g.4789703G>T NCBI36
NG_032174.1:g.8250C>A , LRG_455:g.8250C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.417C>A MANE Select ENSP00000322832.6:p.Gly139=
ENST00000322048.11:c.417C>A ENSP00000322832.5:p.Gly139=
ENST00000585653.1:n.549C>A
ENST00000586153.1:c.162C>A ENSP00000464699.1:p.Gly54=
ENST00000586336.5:n.516C>A
ENST00000586504.5:c.197C>A
ENST00000587377.5:c.417C>A ENSP00000468343.1:p.Gly139=
ENST00000587711.5:c.118-1034C>A ENSP00000467459.1:n.118-1034C>A
ENST00000587843.5:c.*155C>A ENSP00000465970.1:n.*155C>A
ENST00000588201.5:c.*274C>A ENSP00000466529.1:n.*274C>A
ENST00000589543.5:n.374C>A
ENST00000591292.5:n.1746C>A
ENST00000591392.5:c.345C>A ENSP00000467509.1:p.Gly115=
ENST00000592019.1:c.76+60C>A
NM_024589.2:c.417C>A , LRG_455t1:c.417C>A NP_078865.1:p.Gly139=
NR_046480.1:n.741C>A
XM_006720947.2:c.417C>A XP_006721010.1:p.Gly139=
XM_006720948.2:c.147C>A XP_006721011.1:p.Gly49=
XM_006720947.4:c.417C>A XP_006721010.1:p.Gly139=
XM_006720948.4:c.147C>A XP_006721011.1:p.Gly49=
NM_024589.3:c.417C>A MANE Select NP_078865.1:p.Gly139=
NR_046480.2:n.424C>A