Canonical Allele Identifier: CA2631551523
Gene: ROGDI HGNC NCBI

Linked Data

gnomAD v4: 16-4798427-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4798427A>G , CM000678.2:g.4798427A>G GRCh38
NC_000016.9:g.4848428A>G , CM000678.1:g.4848428A>G GRCh37
NC_000016.8:g.4788429A>G NCBI36
NG_032174.1:g.9524T>C , LRG_455:g.9524T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.531+142T>C MANE Select ENSP00000322832.6:n.531+142T>C
ENST00000322048.11:c.531+142T>C ENSP00000322832.5:n.531+142T>C
ENST00000586153.1:c.178-243T>C ENSP00000464699.1:n.178-243T>C
ENST00000586336.5:n.630+142T>C
ENST00000586504.5:c.311+142T>C
ENST00000587377.5:c.544+142T>C ENSP00000468343.1:n.544+142T>C
ENST00000587711.5:c.216+142T>C ENSP00000467459.1:n.216+142T>C
ENST00000587843.5:c.*269+142T>C ENSP00000465970.1:n.*269+142T>C
ENST00000588201.5:c.*522+142T>C ENSP00000466529.1:n.*522+142T>C
ENST00000589543.5:n.488+142T>C
ENST00000591292.5:n.1860+142T>C
ENST00000591392.5:c.459+142T>C ENSP00000467509.1:n.459+142T>C
ENST00000592019.1:c.77-612T>C
NM_024589.2:c.531+142T>C , LRG_455t1:c.531+142T>C NP_078865.1:n.531+142T>C
NR_046480.1:n.855+142T>C
XM_006720947.2:c.531+142T>C XP_006721010.1:n.531+142T>C
XM_006720948.2:c.261+142T>C XP_006721011.1:n.261+142T>C
XM_006720947.4:c.531+142T>C XP_006721010.1:n.531+142T>C
XM_006720948.4:c.261+142T>C XP_006721011.1:n.261+142T>C
NM_024589.3:c.531+142T>C MANE Select NP_078865.1:n.531+142T>C
NR_046480.2:n.538+142T>C