Canonical Allele Identifier: CA2631553329
Gene: ROGDI HGNC NCBI

Linked Data

gnomAD v4: 16-4799833-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4799833A>T , CM000678.2:g.4799833A>T GRCh38
NC_000016.9:g.4849834A>T , CM000678.1:g.4849834A>T GRCh37
NC_000016.8:g.4789835A>T NCBI36
NG_032174.1:g.8118T>A , LRG_455:g.8118T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.337-52T>A MANE Select ENSP00000322832.6:n.337-52T>A
ENST00000322048.11:c.337-52T>A ENSP00000322832.5:n.337-52T>A
ENST00000585653.1:n.469-52T>A
ENST00000586153.1:c.82-52T>A ENSP00000464699.1:n.82-52T>A
ENST00000586336.5:n.436-52T>A
ENST00000586504.5:c.117-52T>A
ENST00000587377.5:c.337-52T>A ENSP00000468343.1:n.337-52T>A
ENST00000587711.5:c.118-1166T>A ENSP00000467459.1:n.118-1166T>A
ENST00000587843.5:c.*75-52T>A ENSP00000465970.1:n.*75-52T>A
ENST00000588201.5:c.*194-52T>A ENSP00000466529.1:n.*194-52T>A
ENST00000589543.5:n.294-52T>A
ENST00000591292.5:n.1666-52T>A
ENST00000591392.5:c.265-52T>A ENSP00000467509.1:n.265-52T>A
ENST00000592019.1:c.56-52T>A
NM_024589.2:c.337-52T>A , LRG_455t1:c.337-52T>A NP_078865.1:n.337-52T>A
NR_046480.1:n.661-52T>A
XM_006720947.2:c.337-52T>A XP_006721010.1:n.337-52T>A
XM_006720948.2:c.67-52T>A XP_006721011.1:n.67-52T>A
XM_006720947.4:c.337-52T>A XP_006721010.1:n.337-52T>A
XM_006720948.4:c.67-52T>A XP_006721011.1:n.67-52T>A
NM_024589.3:c.337-52T>A MANE Select NP_078865.1:n.337-52T>A
NR_046480.2:n.344-52T>A