Canonical Allele Identifier: CA2631550024
Gene: ROGDI HGNC NCBI

Linked Data

gnomAD v4: 16-4797911-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4797911C>G , CM000678.2:g.4797911C>G GRCh38
NC_000016.9:g.4847912C>G , CM000678.1:g.4847912C>G GRCh37
NC_000016.8:g.4787913C>G NCBI36
NG_032174.1:g.10040G>C , LRG_455:g.10040G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.695+27G>C MANE Select ENSP00000322832.6:n.695+27G>C
ENST00000322048.11:c.695+27G>C ENSP00000322832.5:n.695+27G>C
ENST00000586153.1:c.341+27G>C ENSP00000464699.1:n.341+27G>C
ENST00000586336.5:n.794+27G>C
ENST00000586504.5:c.426-71G>C
ENST00000587377.5:c.*15+27G>C ENSP00000468343.1:n.*15+27G>C
ENST00000587711.5:c.380+27G>C ENSP00000467459.1:n.380+27G>C
ENST00000587843.5:c.*433+27G>C ENSP00000465970.1:n.*433+27G>C
ENST00000588201.5:c.*686+27G>C ENSP00000466529.1:n.*686+27G>C
ENST00000589543.5:n.652+27G>C
ENST00000591292.5:n.2024+27G>C
ENST00000591392.5:c.623+27G>C ENSP00000467509.1:n.623+27G>C
ENST00000592019.1:c.77-96G>C
NM_024589.2:c.695+27G>C , LRG_455t1:c.695+27G>C NP_078865.1:n.695+27G>C
NR_046480.1:n.1019+27G>C
XM_006720947.2:c.695+27G>C XP_006721010.1:n.695+27G>C
XM_006720948.2:c.425+27G>C XP_006721011.1:n.425+27G>C
XM_006720947.4:c.695+27G>C XP_006721010.1:n.695+27G>C
XM_006720948.4:c.425+27G>C XP_006721011.1:n.425+27G>C
NM_024589.3:c.695+27G>C MANE Select NP_078865.1:n.695+27G>C
NR_046480.2:n.702+27G>C