Linked Data
dbSNP Id:
rs765473601
ExAC:
3:183963086 C / T
gnomAD v2:
3-183963086-C-T
gnomAD v3:
3-184245298-C-T
gnomAD v4:
3-184245298-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184245298C>T , CM000665.2:g.184245298C>T | GRCh38 |
| NC_000003.11:g.183963086C>T , CM000665.1:g.183963086C>T | GRCh37 |
| NC_000003.10:g.185445780C>T | NCBI36 |
| NG_008924.2:g.9215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397676.8:c.505G>A (ALG3) MANE Select | ENSP00000380793.3:p.Val169Met | |
| ENST00000397676.7:c.505G>A (ALG3) | ENSP00000380793.3:p.Val169Met | |
| ENST00000411922.5:c.*81G>A (ALG3) | ENSP00000394917.1:n.*81G>A | |
| ENST00000414845.5:c.337+170G>A (ALG3) | ||
| ENST00000423996.5:c.*270G>A (ALG3) | ENSP00000407011.1:n.*270G>A | |
| ENST00000444495.1:c.2106+100591C>T (EIF2B5) | ENSP00000409142.1:n.2106+100591C>T | |
| ENST00000445626.6:c.361G>A (ALG3) | ENSP00000402744.2:p.Val121Met | |
| ENST00000446569.1:c.215G>A (ALG3) | ||
| ENST00000455059.5:c.385G>A (ALG3) | ENSP00000397613.1:p.Val129Met | |
| ENST00000461415.5:n.478G>A (ALG3) | ||
| ENST00000477959.1:n.45G>A (ALG3) | ||
| ENST00000482048.1:n.494G>A (ALG3) | ||
| ENST00000488976.5:n.390G>A (ALG3) | ||
| NM_001006941.2:c.361G>A (ALG3) | NP_001006942.1:p.Val121Met | |
| NM_005787.5:c.505G>A (ALG3) | NP_005778.1:p.Val169Met | |
| NR_024533.1:n.436G>A (ALG3) | ||
| NR_024534.1:n.499G>A (ALG3) | ||
| XM_011512322.1:c.406G>A (ALG3) | XP_011510624.1:p.Val136Met | |
| XM_011512323.1:c.385G>A (ALG3) | XP_011510625.1:p.Val129Met | |
| XM_011512323.2:c.385G>A (ALG3) | XP_011510625.1:p.Val129Met | |
| XM_024453296.1:c.283G>A (ALG3) | XP_024309064.1:p.Val95Met | |
| NM_005787.6:c.505G>A (ALG3) MANE Select | NP_005778.1:p.Val169Met |