Canonical Allele Identifier: CA620513382
Gene: ROGDI HGNC NCBI

Linked Data

dbSNP Id: rs1424272158
gnomAD v2: 16-4849653-C-T
gnomAD v4: 16-4799652-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4799652C>T , CM000678.2:g.4799652C>T GRCh38
NC_000016.9:g.4849653C>T , CM000678.1:g.4849653C>T GRCh37
NC_000016.8:g.4789654C>T NCBI36
NG_032174.1:g.8299G>A , LRG_455:g.8299G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.432+34G>A MANE Select ENSP00000322832.6:n.432+34G>A
ENST00000322048.11:c.432+34G>A ENSP00000322832.5:n.432+34G>A
ENST00000585653.1:n.564+34G>A
ENST00000586153.1:c.177+34G>A ENSP00000464699.1:n.177+34G>A
ENST00000586336.5:n.531+34G>A
ENST00000586504.5:c.212+34G>A
ENST00000587377.5:c.423+43G>A ENSP00000468343.1:n.423+43G>A
ENST00000587711.5:c.118-985G>A ENSP00000467459.1:n.118-985G>A
ENST00000587843.5:c.*170+34G>A ENSP00000465970.1:n.*170+34G>A
ENST00000588201.5:c.*289+34G>A ENSP00000466529.1:n.*289+34G>A
ENST00000589543.5:n.389+34G>A
ENST00000591292.5:n.1761+34G>A
ENST00000591392.5:c.360+34G>A ENSP00000467509.1:n.360+34G>A
ENST00000592019.1:c.76+109G>A
NM_024589.2:c.432+34G>A , LRG_455t1:c.432+34G>A NP_078865.1:n.432+34G>A
NR_046480.1:n.756+34G>A
XM_006720947.2:c.432+34G>A XP_006721010.1:n.432+34G>A
XM_006720948.2:c.162+34G>A XP_006721011.1:n.162+34G>A
XM_006720947.4:c.432+34G>A XP_006721010.1:n.432+34G>A
XM_006720948.4:c.162+34G>A XP_006721011.1:n.162+34G>A
NM_024589.3:c.432+34G>A MANE Select NP_078865.1:n.432+34G>A
NR_046480.2:n.439+34G>A