Canonical Allele Identifier: CA2203529107
Gene: ROGDI HGNC NCBI

Linked Data

dbSNP Id: rs2082674745
gnomAD v4: 16-4798034-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4798034A>G , CM000678.2:g.4798034A>G GRCh38
NC_000016.9:g.4848035A>G , CM000678.1:g.4848035A>G GRCh37
NC_000016.8:g.4788036A>G NCBI36
NG_032174.1:g.9917T>C , LRG_455:g.9917T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.645+37T>C MANE Select ENSP00000322832.6:n.645+37T>C
ENST00000322048.11:c.645+37T>C ENSP00000322832.5:n.645+37T>C
ENST00000586153.1:c.291+37T>C ENSP00000464699.1:n.291+37T>C
ENST00000586336.5:n.744+37T>C
ENST00000586504.5:c.425+37T>C
ENST00000587377.5:c.658+37T>C ENSP00000468343.1:n.658+37T>C
ENST00000587711.5:c.330+37T>C ENSP00000467459.1:n.330+37T>C
ENST00000587843.5:c.*383+37T>C ENSP00000465970.1:n.*383+37T>C
ENST00000588201.5:c.*636+37T>C ENSP00000466529.1:n.*636+37T>C
ENST00000589543.5:n.602+37T>C
ENST00000591292.5:n.1974+37T>C
ENST00000591392.5:c.573+37T>C ENSP00000467509.1:n.573+37T>C
ENST00000592019.1:c.77-219T>C
NM_024589.2:c.645+37T>C , LRG_455t1:c.645+37T>C NP_078865.1:n.645+37T>C
NR_046480.1:n.969+37T>C
XM_006720947.2:c.645+37T>C XP_006721010.1:n.645+37T>C
XM_006720948.2:c.375+37T>C XP_006721011.1:n.375+37T>C
XM_006720947.4:c.645+37T>C XP_006721010.1:n.645+37T>C
XM_006720948.4:c.375+37T>C XP_006721011.1:n.375+37T>C
NM_024589.3:c.645+37T>C MANE Select NP_078865.1:n.645+37T>C
NR_046480.2:n.652+37T>C