Canonical Allele Identifier: CA2203528957
Gene: ROGDI HGNC NCBI

Linked Data

dbSNP Id: rs2082671350
gnomAD v4: 16-4797851-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4797851T>C , CM000678.2:g.4797851T>C GRCh38
NC_000016.9:g.4847852T>C , CM000678.1:g.4847852T>C GRCh37
NC_000016.8:g.4787853T>C NCBI36
NG_032174.1:g.10100A>G , LRG_455:g.10100A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.696-11A>G MANE Select ENSP00000322832.6:n.696-11A>G
ENST00000322048.11:c.696-11A>G ENSP00000322832.5:n.696-11A>G
ENST00000586153.1:c.342-15A>G ENSP00000464699.1:n.342-15A>G
ENST00000586336.5:n.795-11A>G
ENST00000586504.5:c.426-11A>G
ENST00000587377.5:c.*16-11A>G ENSP00000468343.1:n.*16-11A>G
ENST00000587711.5:c.381-11A>G ENSP00000467459.1:n.381-11A>G
ENST00000587843.5:c.*434-11A>G ENSP00000465970.1:n.*434-11A>G
ENST00000588201.5:c.*687-11A>G ENSP00000466529.1:n.*687-11A>G
ENST00000589543.5:n.653-11A>G
ENST00000591292.5:n.2025-11A>G
ENST00000591392.5:c.624-11A>G ENSP00000467509.1:n.624-11A>G
ENST00000592019.1:c.77-36A>G
NM_024589.2:c.696-11A>G , LRG_455t1:c.696-11A>G NP_078865.1:n.696-11A>G
NR_046480.1:n.1020-11A>G
XM_006720947.2:c.706A>G XP_006721010.1:p.Thr236Ala
XM_006720948.2:c.436A>G XP_006721011.1:p.Thr146Ala
XM_006720947.4:c.706A>G XP_006721010.1:p.Thr236Ala
XM_006720948.4:c.436A>G XP_006721011.1:p.Thr146Ala
NM_024589.3:c.696-11A>G MANE Select NP_078865.1:n.696-11A>G
NR_046480.2:n.703-11A>G