Canonical Allele Identifier: CA2631551239
Gene: ROGDI HGNC NCBI

Linked Data

gnomAD v4: 16-4798298-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4798298A>T , CM000678.2:g.4798298A>T GRCh38
NC_000016.9:g.4848299A>T , CM000678.1:g.4848299A>T GRCh37
NC_000016.8:g.4788300A>T NCBI36
NG_032174.1:g.9653T>A , LRG_455:g.9653T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.532-114T>A MANE Select ENSP00000322832.6:n.532-114T>A
ENST00000322048.11:c.532-114T>A ENSP00000322832.5:n.532-114T>A
ENST00000586153.1:c.178-114T>A ENSP00000464699.1:n.178-114T>A
ENST00000586336.5:n.631-114T>A
ENST00000586504.5:c.312-114T>A
ENST00000587377.5:c.545-114T>A ENSP00000468343.1:n.545-114T>A
ENST00000587711.5:c.217-114T>A ENSP00000467459.1:n.217-114T>A
ENST00000587843.5:c.*270-114T>A ENSP00000465970.1:n.*270-114T>A
ENST00000588201.5:c.*523-114T>A ENSP00000466529.1:n.*523-114T>A
ENST00000589543.5:n.489-114T>A
ENST00000591292.5:n.1861-114T>A
ENST00000591392.5:c.460-114T>A ENSP00000467509.1:n.460-114T>A
ENST00000592019.1:c.77-483T>A
NM_024589.2:c.532-114T>A , LRG_455t1:c.532-114T>A NP_078865.1:n.532-114T>A
NR_046480.1:n.856-114T>A
XM_006720947.2:c.532-114T>A XP_006721010.1:n.532-114T>A
XM_006720948.2:c.262-114T>A XP_006721011.1:n.262-114T>A
XM_006720947.4:c.532-114T>A XP_006721010.1:n.532-114T>A
XM_006720948.4:c.262-114T>A XP_006721011.1:n.262-114T>A
NM_024589.3:c.532-114T>A MANE Select NP_078865.1:n.532-114T>A
NR_046480.2:n.539-114T>A