Linked Data
ClinVar Variation Id:
344360
dbSNP Id:
rs200875721
ExAC:
3:183963575 G / A
gnomAD v2:
3-183963575-G-A
gnomAD v3:
3-184245787-G-A
gnomAD v4:
3-184245787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184245787G>A , CM000665.2:g.184245787G>A | GRCh38 |
| NC_000003.11:g.183963575G>A , CM000665.1:g.183963575G>A | GRCh37 |
| NC_000003.10:g.185446269G>A | NCBI36 |
| NG_008924.2:g.8726C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397676.8:c.222C>T (ALG3) MANE Select | ENSP00000380793.3:p.Tyr74= | |
| ENST00000397676.7:c.222C>T (ALG3) | ENSP00000380793.3:p.Tyr74= | |
| ENST00000411922.5:c.197-172C>T (ALG3) | ENSP00000394917.1:n.197-172C>T | |
| ENST00000414845.5:c.190-172C>T (ALG3) | ||
| ENST00000423996.5:c.185C>T (ALG3) | ENSP00000407011.1:p.Thr62Ile | |
| ENST00000444495.1:c.2106+101080G>A (EIF2B5) | ENSP00000409142.1:n.2106+101080G>A | |
| ENST00000445626.6:c.78C>T (ALG3) | ENSP00000402744.2:p.Tyr26= | |
| ENST00000446569.1:c.155-429C>T (ALG3) | ||
| ENST00000455059.5:c.102C>T (ALG3) | ENSP00000397613.1:p.Tyr34= | |
| ENST00000461415.5:n.195C>T (ALG3) | ||
| ENST00000482048.1:n.211C>T (ALG3) | ||
| ENST00000488976.5:n.182-172C>T (ALG3) | ||
| NM_001006941.2:c.78C>T (ALG3) | NP_001006942.1:p.Tyr26= | |
| NM_005787.5:c.222C>T (ALG3) | NP_005778.1:p.Tyr74= | |
| NR_024533.1:n.228-172C>T (ALG3) | ||
| NR_024534.1:n.216C>T (ALG3) | ||
| XM_011512322.1:c.123C>T (ALG3) | XP_011510624.1:p.Tyr41= | |
| XM_011512323.1:c.102C>T (ALG3) | XP_011510625.1:p.Tyr34= | |
| XM_011512323.2:c.102C>T (ALG3) | XP_011510625.1:p.Tyr34= | |
| XM_024453296.1:c.-1C>T (ALG3) | XP_024309064.1:n.-1C>T | |
| NM_005787.6:c.222C>T (ALG3) MANE Select | NP_005778.1:p.Tyr74= |