Linked Data
ClinVar Variation Id:
2131
ClinVar RCV Id:
RCV000002213
dbSNP Id:
rs119103238
gnomAD v4:
3-184245333-A-T
PubMed:
PMID:17551933
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184245333A>T , CM000665.2:g.184245333A>T | GRCh38 |
| NC_000003.11:g.183963121A>T , CM000665.1:g.183963121A>T | GRCh37 |
| NC_000003.10:g.185445815A>T | NCBI36 |
| NG_008924.2:g.9180T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397676.8:c.470T>A (ALG3) MANE Select | ENSP00000380793.3:p.Met157Lys | |
| ENST00000397676.7:c.470T>A (ALG3) | ENSP00000380793.3:p.Met157Lys | |
| ENST00000411922.5:c.*46T>A (ALG3) | ENSP00000394917.1:n.*46T>A | |
| ENST00000414845.5:c.337+135T>A (ALG3) | ||
| ENST00000423996.5:c.*235T>A (ALG3) | ENSP00000407011.1:n.*235T>A | |
| ENST00000444495.1:c.2106+100626A>T (EIF2B5) | ENSP00000409142.1:n.2106+100626A>T | |
| ENST00000445626.6:c.326T>A (ALG3) | ENSP00000402744.2:p.Met109Lys | |
| ENST00000446569.1:c.180T>A (ALG3) | ||
| ENST00000455059.5:c.350T>A (ALG3) | ENSP00000397613.1:p.Met117Lys | |
| ENST00000461415.5:n.443T>A (ALG3) | ||
| ENST00000477959.1:n.10T>A (ALG3) | ||
| ENST00000482048.1:n.459T>A (ALG3) | ||
| ENST00000488976.5:n.355T>A (ALG3) | ||
| NM_001006941.2:c.326T>A (ALG3) | NP_001006942.1:p.Met109Lys | |
| NM_005787.5:c.470T>A (ALG3) | NP_005778.1:p.Met157Lys | |
| NR_024533.1:n.401T>A (ALG3) | ||
| NR_024534.1:n.464T>A (ALG3) | ||
| XM_011512322.1:c.371T>A (ALG3) | XP_011510624.1:p.Met124Lys | |
| XM_011512323.1:c.350T>A (ALG3) | XP_011510625.1:p.Met117Lys | |
| XM_011512323.2:c.350T>A (ALG3) | XP_011510625.1:p.Met117Lys | |
| XM_024453296.1:c.248T>A (ALG3) | XP_024309064.1:p.Met83Lys | |
| NM_005787.6:c.470T>A (ALG3) MANE Select | NP_005778.1:p.Met157Lys |