Linked Data
ClinVar Variation Id:
312418
dbSNP Id:
rs3825528
ExAC:
13:52602919 A / C
gnomAD v2:
13-52602919-A-C
gnomAD v3:
13-52028783-A-C
gnomAD v4:
13-52028783-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52028783A>C , CM000675.2:g.52028783A>C | GRCh38 |
| NC_000013.10:g.52602919A>C , CM000675.1:g.52602919A>C | GRCh37 |
| NC_000013.9:g.51500920A>C | NCBI36 |
| NG_028038.1:g.21397A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521508.2:c.*193A>C (ALG11) MANE Select | ENSP00000430236.1:n.*193A>C | |
| ENST00000649340.2:c.*193A>C (ALG11) | ENSP00000497184.2:n.*193A>C | |
| ENST00000649651.2:n.5976A>C (ALG11) | ||
| ENST00000649708.2:c.275+9640A>C (ALG11) | ENSP00000497459.2:n.275+9640A>C | |
| ENST00000679359.1:c.*1424A>C (ALG11) | ENSP00000505579.1:n.*1424A>C | |
| ENST00000679495.1:n.44+16321A>C (ALG11) | ||
| ENST00000679544.1:c.*398A>C (ALG11) | ENSP00000505560.1:n.*398A>C | |
| ENST00000680058.1:n.1575A>C (ALG11) | ||
| ENST00000680793.1:n.2664A>C (ALG11) | ||
| ENST00000680950.1:n.1799A>C (ALG11) | ||
| ENST00000681047.1:c.*1397A>C (ALG11) | ENSP00000505034.1:n.*1397A>C | |
| ENST00000681053.1:c.*193A>C (ALG11) | ENSP00000505307.1:n.*193A>C | |
| ENST00000681145.1:c.*462A>C (ALG11) | ENSP00000505163.1:n.*462A>C | |
| ENST00000681226.1:n.860A>C (ALG11) | ||
| ENST00000521508.1:c.*193A>C (ALG11) | ENSP00000430236.1:n.*193A>C | |
| ENST00000521776.2:c.-22A>C (UTP14C) MANE Select | ENSP00000428619.1:n.-22A>C | |
| ENST00000523764.1:c.*398A>C (ALG11) | ENSP00000429497.1:n.*398A>C | |
| NM_001004127.2:c.*193A>C (ALG11) | NP_001004127.2:n.*193A>C | |
| NM_021645.5:c.-22A>C (UTP14C) | NP_067677.4:n.-22A>C | |
| NR_036571.2:n.541A>C (ALG11) | ||
| NM_001004127.3:c.*193A>C (ALG11) MANE Select | NP_001004127.2:n.*193A>C | |
| NM_021645.6:c.-22A>C (UTP14C) MANE Select | NP_067677.4:n.-22A>C | |
| NR_036571.3:n.530A>C (ALG11) |