Canonical Allele Identifier: CA2631551416
Gene: ROGDI HGNC NCBI

Linked Data

gnomAD v4: 16-4798387-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4798387A>C , CM000678.2:g.4798387A>C GRCh38
NC_000016.9:g.4848388A>C , CM000678.1:g.4848388A>C GRCh37
NC_000016.8:g.4788389A>C NCBI36
NG_032174.1:g.9564T>G , LRG_455:g.9564T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.531+182T>G MANE Select ENSP00000322832.6:n.531+182T>G
ENST00000322048.11:c.531+182T>G ENSP00000322832.5:n.531+182T>G
ENST00000586153.1:c.178-203T>G ENSP00000464699.1:n.178-203T>G
ENST00000586336.5:n.630+182T>G
ENST00000586504.5:c.311+182T>G
ENST00000587377.5:c.544+182T>G ENSP00000468343.1:n.544+182T>G
ENST00000587711.5:c.216+182T>G ENSP00000467459.1:n.216+182T>G
ENST00000587843.5:c.*269+182T>G ENSP00000465970.1:n.*269+182T>G
ENST00000588201.5:c.*522+182T>G ENSP00000466529.1:n.*522+182T>G
ENST00000589543.5:n.488+182T>G
ENST00000591292.5:n.1860+182T>G
ENST00000591392.5:c.459+182T>G ENSP00000467509.1:n.459+182T>G
ENST00000592019.1:c.77-572T>G
NM_024589.2:c.531+182T>G , LRG_455t1:c.531+182T>G NP_078865.1:n.531+182T>G
NR_046480.1:n.855+182T>G
XM_006720947.2:c.531+182T>G XP_006721010.1:n.531+182T>G
XM_006720948.2:c.261+182T>G XP_006721011.1:n.261+182T>G
XM_006720947.4:c.531+182T>G XP_006721010.1:n.531+182T>G
XM_006720948.4:c.261+182T>G XP_006721011.1:n.261+182T>G
NM_024589.3:c.531+182T>G MANE Select NP_078865.1:n.531+182T>G
NR_046480.2:n.538+182T>G