Canonical Allele Identifier: CA974004187
Gene: ROGDI HGNC NCBI

Linked Data

dbSNP Id: rs948032631
gnomAD v3: 16-4798496-G-T
gnomAD v4: 16-4798496-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4798496G>T , CM000678.2:g.4798496G>T GRCh38
NC_000016.9:g.4848497G>T , CM000678.1:g.4848497G>T GRCh37
NC_000016.8:g.4788498G>T NCBI36
NG_032174.1:g.9455C>A , LRG_455:g.9455C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.531+73C>A MANE Select ENSP00000322832.6:n.531+73C>A
ENST00000322048.11:c.531+73C>A ENSP00000322832.5:n.531+73C>A
ENST00000586153.1:c.178-312C>A ENSP00000464699.1:n.178-312C>A
ENST00000586336.5:n.630+73C>A
ENST00000586504.5:c.311+73C>A
ENST00000587377.5:c.544+73C>A ENSP00000468343.1:n.544+73C>A
ENST00000587711.5:c.216+73C>A ENSP00000467459.1:n.216+73C>A
ENST00000587843.5:c.*269+73C>A ENSP00000465970.1:n.*269+73C>A
ENST00000588201.5:c.*522+73C>A ENSP00000466529.1:n.*522+73C>A
ENST00000589543.5:n.488+73C>A
ENST00000591292.5:n.1860+73C>A
ENST00000591392.5:c.459+73C>A ENSP00000467509.1:n.459+73C>A
ENST00000592019.1:c.77-681C>A
NM_024589.2:c.531+73C>A , LRG_455t1:c.531+73C>A NP_078865.1:n.531+73C>A
NR_046480.1:n.855+73C>A
XM_006720947.2:c.531+73C>A XP_006721010.1:n.531+73C>A
XM_006720948.2:c.261+73C>A XP_006721011.1:n.261+73C>A
XM_006720947.4:c.531+73C>A XP_006721010.1:n.531+73C>A
XM_006720948.4:c.261+73C>A XP_006721011.1:n.261+73C>A
NM_024589.3:c.531+73C>A MANE Select NP_078865.1:n.531+73C>A
NR_046480.2:n.538+73C>A