Linked Data
ClinVar Variation Id:
344355
dbSNP Id:
rs2233464
ExAC:
3:183963000 A / G
gnomAD v2:
3-183963000-A-G
gnomAD v3:
3-184245212-A-G
gnomAD v4:
3-184245212-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184245212A>G , CM000665.2:g.184245212A>G | GRCh38 |
| NC_000003.11:g.183963000A>G , CM000665.1:g.183963000A>G | GRCh37 |
| NC_000003.10:g.185445694A>G | NCBI36 |
| NG_008924.2:g.9301T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397676.8:c.591T>C (ALG3) MANE Select | ENSP00000380793.3:p.Gly197= | |
| ENST00000397676.7:c.591T>C (ALG3) | ENSP00000380793.3:p.Gly197= | |
| ENST00000411922.5:c.*167T>C (ALG3) | ENSP00000394917.1:n.*167T>C | |
| ENST00000414845.5:c.337+256T>C (ALG3) | ||
| ENST00000423996.5:c.*356T>C (ALG3) | ENSP00000407011.1:n.*356T>C | |
| ENST00000444495.1:c.2106+100505A>G (EIF2B5) | ENSP00000409142.1:n.2106+100505A>G | |
| ENST00000445626.6:c.447T>C (ALG3) | ENSP00000402744.2:p.Gly149= | |
| ENST00000446569.1:c.301T>C (ALG3) | ||
| ENST00000455059.5:c.471T>C (ALG3) | ENSP00000397613.1:p.Gly157= | |
| ENST00000461415.5:n.564T>C (ALG3) | ||
| ENST00000477959.1:n.131T>C (ALG3) | ||
| ENST00000482048.1:n.580T>C (ALG3) | ||
| ENST00000488976.5:n.476T>C (ALG3) | ||
| NM_001006941.2:c.447T>C (ALG3) | NP_001006942.1:p.Gly149= | |
| NM_005787.5:c.591T>C (ALG3) | NP_005778.1:p.Gly197= | |
| NR_024533.1:n.522T>C (ALG3) | ||
| NR_024534.1:n.585T>C (ALG3) | ||
| XM_011512322.1:c.492T>C (ALG3) | XP_011510624.1:p.Gly164= | |
| XM_011512323.1:c.471T>C (ALG3) | XP_011510625.1:p.Gly157= | |
| XM_011512323.2:c.471T>C (ALG3) | XP_011510625.1:p.Gly157= | |
| XM_024453296.1:c.369T>C (ALG3) | XP_024309064.1:p.Gly123= | |
| NM_005787.6:c.591T>C (ALG3) MANE Select | NP_005778.1:p.Gly197= |