Linked Data
ClinVar Variation Id:
312414
ClinVar RCV Id:
RCV000268441
dbSNP Id:
rs147711581
ExAC:
13:52598895 A / G
gnomAD v2:
13-52598895-A-G
gnomAD v3:
13-52024759-A-G
gnomAD v4:
13-52024759-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52024759A>G , CM000675.2:g.52024759A>G | GRCh38 |
| NC_000013.10:g.52598895A>G , CM000675.1:g.52598895A>G | GRCh37 |
| NC_000013.9:g.51496896A>G | NCBI36 |
| NG_028038.1:g.17373A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521508.2:c.1029A>G (ALG11) MANE Select | ENSP00000430236.1:p.Gly343= | |
| ENST00000649340.2:c.1029A>G (ALG11) | ENSP00000497184.2:p.Gly343= | |
| ENST00000649651.2:n.5333A>G (ALG11) | ||
| ENST00000649708.2:c.275+5616A>G (ALG11) | ENSP00000497459.2:n.275+5616A>G | |
| ENST00000650049.2:c.*137A>G (ALG11) | ENSP00000497398.2:n.*137A>G | |
| ENST00000679359.1:c.*781A>G (ALG11) | ENSP00000505579.1:n.*781A>G | |
| ENST00000679495.1:n.44+12297A>G (ALG11) | ||
| ENST00000679544.1:c.276-3560A>G (ALG11) | ENSP00000505560.1:n.276-3560A>G | |
| ENST00000680058.1:n.932A>G (ALG11) | ||
| ENST00000680793.1:n.2200-3560A>G (ALG11) | ||
| ENST00000680950.1:n.1156A>G (ALG11) | ||
| ENST00000681047.1:c.*754A>G (ALG11) | ENSP00000505034.1:n.*754A>G | |
| ENST00000681053.1:c.798A>G (ALG11) | ENSP00000505307.1:p.Gly266= | |
| ENST00000681145.1:c.*1-3563A>G (ALG11) | ENSP00000505163.1:n.*1-3563A>G | |
| ENST00000681226.1:n.396-3560A>G (ALG11) | ||
| ENST00000519151.1:n.3965A>G (ALG11) | ||
| ENST00000521508.1:c.1029A>G (ALG11) | ENSP00000430236.1:p.Gly343= | |
| ENST00000521776.2:c.-665A>G (UTP14C) MANE Select | ENSP00000428619.1:n.-665A>G | |
| ENST00000523764.1:c.45-3560A>G (ALG11) | ENSP00000429497.1:n.45-3560A>G | |
| NM_001004127.2:c.1029A>G (ALG11) | NP_001004127.2:p.Gly343= | |
| NM_021645.5:c.-665A>G (UTP14C) | NP_067677.4:n.-665A>G | |
| NR_036571.2:n.77-3560A>G (ALG11) | ||
| NM_001004127.3:c.1029A>G (ALG11) MANE Select | NP_001004127.2:p.Gly343= | |
| NM_021645.6:c.-665A>G (UTP14C) MANE Select | NP_067677.4:n.-665A>G | |
| NR_036571.3:n.66-3560A>G (ALG11) |