Linked Data
ClinVar Variation Id:
344361
dbSNP Id:
rs763727038
ExAC:
3:183966678 T / C
gnomAD v2:
3-183966678-T-C
gnomAD v3:
3-184248890-T-C
gnomAD v4:
3-184248890-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184248890T>C , CM000665.2:g.184248890T>C | GRCh38 |
| NC_000003.11:g.183966678T>C , CM000665.1:g.183966678T>C | GRCh37 |
| NC_000003.10:g.185449372T>C | NCBI36 |
| NG_008924.2:g.5623A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397676.8:c.51A>G (ALG3) MANE Select | ENSP00000380793.3:p.Ala17= | |
| ENST00000397676.7:c.51A>G (ALG3) | ENSP00000380793.3:p.Ala17= | |
| ENST00000411922.5:c.51A>G (ALG3) | ENSP00000394917.1:p.Ala17= | |
| ENST00000414845.5:c.44A>G (ALG3) | ||
| ENST00000423996.5:c.51A>G (ALG3) | ENSP00000407011.1:p.Ala17= | |
| ENST00000444495.1:c.2106+104183T>C (EIF2B5) | ENSP00000409142.1:n.2106+104183T>C | |
| ENST00000445626.6:c.52+336A>G (ALG3) | ENSP00000402744.2:n.52+336A>G | |
| ENST00000446569.1:c.46A>G (ALG3) | ||
| ENST00000455059.5:c.76+100A>G (ALG3) | ENSP00000397613.1:n.76+100A>G | |
| ENST00000461415.5:n.61A>G (ALG3) | ||
| ENST00000482048.1:n.40A>G (ALG3) | ||
| ENST00000488976.5:n.73A>G (ALG3) | ||
| NM_001006941.2:c.52+336A>G (ALG3) | NP_001006942.1:n.52+336A>G | |
| NM_005787.5:c.51A>G (ALG3) | NP_005778.1:p.Ala17= | |
| NR_024533.1:n.82A>G (ALG3) | ||
| NR_024534.1:n.82A>G (ALG3) | ||
| XM_011512323.1:c.76+100A>G (ALG3) | XP_011510625.1:n.76+100A>G | |
| XM_011512323.2:c.76+100A>G (ALG3) | XP_011510625.1:n.76+100A>G | |
| XM_024453296.1:c.-27+2852A>G (ALG3) | XP_024309064.1:n.-27+2852A>G | |
| NM_005787.6:c.51A>G (ALG3) MANE Select | NP_005778.1:p.Ala17= |