Canonical Allele Identifier: CA2203530332
Gene: ROGDI HGNC NCBI

Linked Data

dbSNP Id: rs1596276681
gnomAD v4: 16-4799812-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4799812G>A , CM000678.2:g.4799812G>A GRCh38
NC_000016.9:g.4849813G>A , CM000678.1:g.4849813G>A GRCh37
NC_000016.8:g.4789814G>A NCBI36
NG_032174.1:g.8139C>T , LRG_455:g.8139C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.337-31C>T MANE Select ENSP00000322832.6:n.337-31C>T
ENST00000322048.11:c.337-31C>T ENSP00000322832.5:n.337-31C>T
ENST00000585653.1:n.469-31C>T
ENST00000586153.1:c.82-31C>T ENSP00000464699.1:n.82-31C>T
ENST00000586336.5:n.436-31C>T
ENST00000586504.5:c.117-31C>T
ENST00000587377.5:c.337-31C>T ENSP00000468343.1:n.337-31C>T
ENST00000587711.5:c.118-1145C>T ENSP00000467459.1:n.118-1145C>T
ENST00000587843.5:c.*75-31C>T ENSP00000465970.1:n.*75-31C>T
ENST00000588201.5:c.*194-31C>T ENSP00000466529.1:n.*194-31C>T
ENST00000589543.5:n.294-31C>T
ENST00000591292.5:n.1666-31C>T
ENST00000591392.5:c.265-31C>T ENSP00000467509.1:n.265-31C>T
ENST00000592019.1:c.56-31C>T
NM_024589.2:c.337-31C>T , LRG_455t1:c.337-31C>T NP_078865.1:n.337-31C>T
NR_046480.1:n.661-31C>T
XM_006720947.2:c.337-31C>T XP_006721010.1:n.337-31C>T
XM_006720948.2:c.67-31C>T XP_006721011.1:n.67-31C>T
XM_006720947.4:c.337-31C>T XP_006721010.1:n.337-31C>T
XM_006720948.4:c.67-31C>T XP_006721011.1:n.67-31C>T
NM_024589.3:c.337-31C>T MANE Select NP_078865.1:n.337-31C>T
NR_046480.2:n.344-31C>T