Linked Data
ClinVar Variation Id:
427138
dbSNP Id:
rs1085307981
gnomAD v2:
3-183963305-T-C
gnomAD v3:
3-184245517-T-C
gnomAD v4:
3-184245517-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184245517T>C , CM000665.2:g.184245517T>C | GRCh38 |
| NC_000003.11:g.183963305T>C , CM000665.1:g.183963305T>C | GRCh37 |
| NC_000003.10:g.185445999T>C | NCBI36 |
| NG_008924.2:g.8996A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397676.8:c.395A>G (ALG3) MANE Select | ENSP00000380793.3:p.Tyr132Cys | |
| ENST00000397676.7:c.395A>G (ALG3) | ENSP00000380793.3:p.Tyr132Cys | |
| ENST00000411922.5:c.295A>G (ALG3) | ENSP00000394917.1:p.Thr99Ala | |
| ENST00000414845.5:c.288A>G (ALG3) | ||
| ENST00000423996.5:c.*160A>G (ALG3) | ENSP00000407011.1:n.*160A>G | |
| ENST00000444495.1:c.2106+100810T>C (EIF2B5) | ENSP00000409142.1:n.2106+100810T>C | |
| ENST00000445626.6:c.251A>G (ALG3) | ENSP00000402744.2:p.Tyr84Cys | |
| ENST00000446569.1:c.155-159A>G (ALG3) | ||
| ENST00000455059.5:c.275A>G (ALG3) | ENSP00000397613.1:p.Tyr92Cys | |
| ENST00000461415.5:n.368A>G (ALG3) | ||
| ENST00000482048.1:n.384A>G (ALG3) | ||
| ENST00000488976.5:n.280A>G (ALG3) | ||
| NM_001006941.2:c.251A>G (ALG3) | NP_001006942.1:p.Tyr84Cys | |
| NM_005787.5:c.395A>G (ALG3) | NP_005778.1:p.Tyr132Cys | |
| NR_024533.1:n.326A>G (ALG3) | ||
| NR_024534.1:n.389A>G (ALG3) | ||
| XM_011512322.1:c.296A>G (ALG3) | XP_011510624.1:p.Tyr99Cys | |
| XM_011512323.1:c.275A>G (ALG3) | XP_011510625.1:p.Tyr92Cys | |
| XM_011512323.2:c.275A>G (ALG3) | XP_011510625.1:p.Tyr92Cys | |
| XM_024453296.1:c.173A>G (ALG3) | XP_024309064.1:p.Tyr58Cys | |
| NM_005787.6:c.395A>G (ALG3) MANE Select | NP_005778.1:p.Tyr132Cys |