Canonical Allele Identifier: CA974003812
Gene: ROGDI HGNC NCBI

Linked Data

dbSNP Id: rs2082672163
gnomAD v3: 16-4797896-A-C
gnomAD v4: 16-4797896-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4797896A>C , CM000678.2:g.4797896A>C GRCh38
NC_000016.9:g.4847897A>C , CM000678.1:g.4847897A>C GRCh37
NC_000016.8:g.4787898A>C NCBI36
NG_032174.1:g.10055T>G , LRG_455:g.10055T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.695+42T>G MANE Select ENSP00000322832.6:n.695+42T>G
ENST00000322048.11:c.695+42T>G ENSP00000322832.5:n.695+42T>G
ENST00000586153.1:c.341+42T>G ENSP00000464699.1:n.341+42T>G
ENST00000586336.5:n.794+42T>G
ENST00000586504.5:c.426-56T>G
ENST00000587377.5:c.*15+42T>G ENSP00000468343.1:n.*15+42T>G
ENST00000587711.5:c.380+42T>G ENSP00000467459.1:n.380+42T>G
ENST00000587843.5:c.*433+42T>G ENSP00000465970.1:n.*433+42T>G
ENST00000588201.5:c.*686+42T>G ENSP00000466529.1:n.*686+42T>G
ENST00000589543.5:n.652+42T>G
ENST00000591292.5:n.2024+42T>G
ENST00000591392.5:c.623+42T>G ENSP00000467509.1:n.623+42T>G
ENST00000592019.1:c.77-81T>G
NM_024589.2:c.695+42T>G , LRG_455t1:c.695+42T>G NP_078865.1:n.695+42T>G
NR_046480.1:n.1019+42T>G
XM_006720947.2:c.696-35T>G XP_006721010.1:n.696-35T>G
XM_006720948.2:c.426-35T>G XP_006721011.1:n.426-35T>G
XM_006720947.4:c.696-35T>G XP_006721010.1:n.696-35T>G
XM_006720948.4:c.426-35T>G XP_006721011.1:n.426-35T>G
NM_024589.3:c.695+42T>G MANE Select NP_078865.1:n.695+42T>G
NR_046480.2:n.702+42T>G