Linked Data
ClinVar Variation Id:
2129
dbSNP Id:
rs119103236
ExAC:
3:183963079 C / T
gnomAD v2:
3-183963079-C-T
gnomAD v3:
3-184245291-C-T
gnomAD v4:
3-184245291-C-T
PubMed:
PMID:15840742
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184245291C>T , CM000665.2:g.184245291C>T | GRCh38 |
| NC_000003.11:g.183963079C>T , CM000665.1:g.183963079C>T | GRCh37 |
| NC_000003.10:g.185445773C>T | NCBI36 |
| NG_008924.2:g.9222G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397676.8:c.512G>A (ALG3) MANE Select | ENSP00000380793.3:p.Arg171Gln | |
| ENST00000397676.7:c.512G>A (ALG3) | ENSP00000380793.3:p.Arg171Gln | |
| ENST00000411922.5:c.*88G>A (ALG3) | ENSP00000394917.1:n.*88G>A | |
| ENST00000414845.5:c.337+177G>A (ALG3) | ||
| ENST00000423996.5:c.*277G>A (ALG3) | ENSP00000407011.1:n.*277G>A | |
| ENST00000444495.1:c.2106+100584C>T (EIF2B5) | ENSP00000409142.1:n.2106+100584C>T | |
| ENST00000445626.6:c.368G>A (ALG3) | ENSP00000402744.2:p.Arg123Gln | |
| ENST00000446569.1:c.222G>A (ALG3) | ||
| ENST00000455059.5:c.392G>A (ALG3) | ENSP00000397613.1:p.Arg131Gln | |
| ENST00000461415.5:n.485G>A (ALG3) | ||
| ENST00000477959.1:n.52G>A (ALG3) | ||
| ENST00000482048.1:n.501G>A (ALG3) | ||
| ENST00000488976.5:n.397G>A (ALG3) | ||
| NM_001006941.2:c.368G>A (ALG3) | NP_001006942.1:p.Arg123Gln | |
| NM_005787.5:c.512G>A (ALG3) | NP_005778.1:p.Arg171Gln | |
| NR_024533.1:n.443G>A (ALG3) | ||
| NR_024534.1:n.506G>A (ALG3) | ||
| XM_011512322.1:c.413G>A (ALG3) | XP_011510624.1:p.Arg138Gln | |
| XM_011512323.1:c.392G>A (ALG3) | XP_011510625.1:p.Arg131Gln | |
| XM_011512323.2:c.392G>A (ALG3) | XP_011510625.1:p.Arg131Gln | |
| XM_024453296.1:c.290G>A (ALG3) | XP_024309064.1:p.Arg97Gln | |
| NM_005787.6:c.512G>A (ALG3) MANE Select | NP_005778.1:p.Arg171Gln |