Canonical Allele Identifier: CA2203529304
Gene: ROGDI HGNC NCBI

Linked Data

dbSNP Id: rs542174489
gnomAD v4: 16-4798292-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4798292C>G , CM000678.2:g.4798292C>G GRCh38
NC_000016.9:g.4848293C>G , CM000678.1:g.4848293C>G GRCh37
NC_000016.8:g.4788294C>G NCBI36
NG_032174.1:g.9659G>C , LRG_455:g.9659G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.532-108G>C MANE Select ENSP00000322832.6:n.532-108G>C
ENST00000322048.11:c.532-108G>C ENSP00000322832.5:n.532-108G>C
ENST00000586153.1:c.178-108G>C ENSP00000464699.1:n.178-108G>C
ENST00000586336.5:n.631-108G>C
ENST00000586504.5:c.312-108G>C
ENST00000587377.5:c.545-108G>C ENSP00000468343.1:n.545-108G>C
ENST00000587711.5:c.217-108G>C ENSP00000467459.1:n.217-108G>C
ENST00000587843.5:c.*270-108G>C ENSP00000465970.1:n.*270-108G>C
ENST00000588201.5:c.*523-108G>C ENSP00000466529.1:n.*523-108G>C
ENST00000589543.5:n.489-108G>C
ENST00000591292.5:n.1861-108G>C
ENST00000591392.5:c.460-108G>C ENSP00000467509.1:n.460-108G>C
ENST00000592019.1:c.77-477G>C
NM_024589.2:c.532-108G>C , LRG_455t1:c.532-108G>C NP_078865.1:n.532-108G>C
NR_046480.1:n.856-108G>C
XM_006720947.2:c.532-108G>C XP_006721010.1:n.532-108G>C
XM_006720948.2:c.262-108G>C XP_006721011.1:n.262-108G>C
XM_006720947.4:c.532-108G>C XP_006721010.1:n.532-108G>C
XM_006720948.4:c.262-108G>C XP_006721011.1:n.262-108G>C
NM_024589.3:c.532-108G>C MANE Select NP_078865.1:n.532-108G>C
NR_046480.2:n.539-108G>C