Linked Data
ClinVar Variation Id:
1184851
ClinVar RCV Id:
RCV001543411
dbSNP Id:
rs1719068613
gnomAD v3:
3-184245282-T-C
gnomAD v4:
3-184245282-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184245282T>C , CM000665.2:g.184245282T>C | GRCh38 |
| NC_000003.11:g.183963070T>C , CM000665.1:g.183963070T>C | GRCh37 |
| NC_000003.10:g.185445764T>C | NCBI36 |
| NG_008924.2:g.9231A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397676.8:c.521A>G (ALG3) MANE Select | ENSP00000380793.3:p.Asn174Ser | |
| ENST00000397676.7:c.521A>G (ALG3) | ENSP00000380793.3:p.Asn174Ser | |
| ENST00000411922.5:c.*97A>G (ALG3) | ENSP00000394917.1:n.*97A>G | |
| ENST00000414845.5:c.337+186A>G (ALG3) | ||
| ENST00000423996.5:c.*286A>G (ALG3) | ENSP00000407011.1:n.*286A>G | |
| ENST00000444495.1:c.2106+100575T>C (EIF2B5) | ENSP00000409142.1:n.2106+100575T>C | |
| ENST00000445626.6:c.377A>G (ALG3) | ENSP00000402744.2:p.Asn126Ser | |
| ENST00000446569.1:c.231A>G (ALG3) | ||
| ENST00000455059.5:c.401A>G (ALG3) | ENSP00000397613.1:p.Asn134Ser | |
| ENST00000461415.5:n.494A>G (ALG3) | ||
| ENST00000477959.1:n.61A>G (ALG3) | ||
| ENST00000482048.1:n.510A>G (ALG3) | ||
| ENST00000488976.5:n.406A>G (ALG3) | ||
| NM_001006941.2:c.377A>G (ALG3) | NP_001006942.1:p.Asn126Ser | |
| NM_005787.5:c.521A>G (ALG3) | NP_005778.1:p.Asn174Ser | |
| NR_024533.1:n.452A>G (ALG3) | ||
| NR_024534.1:n.515A>G (ALG3) | ||
| XM_011512322.1:c.422A>G (ALG3) | XP_011510624.1:p.Asn141Ser | |
| XM_011512323.1:c.401A>G (ALG3) | XP_011510625.1:p.Asn134Ser | |
| XM_011512323.2:c.401A>G (ALG3) | XP_011510625.1:p.Asn134Ser | |
| XM_024453296.1:c.299A>G (ALG3) | XP_024309064.1:p.Asn100Ser | |
| NM_005787.6:c.521A>G (ALG3) MANE Select | NP_005778.1:p.Asn174Ser |