Linked Data
ClinVar Variation Id:
2128
ClinVar RCV Id:
RCV000002210
dbSNP Id:
rs387906273
ExAC:
3:183966564 G / A
gnomAD v2:
3-183966564-G-A
gnomAD v3:
3-184248776-G-A
gnomAD v4:
3-184248776-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184248776G>A , CM000665.2:g.184248776G>A | GRCh38 |
| NC_000003.11:g.183966564G>A , CM000665.1:g.183966564G>A | GRCh37 |
| NC_000003.10:g.185449258G>A | NCBI36 |
| NG_008924.2:g.5737C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397676.8:c.165C>T (ALG3) MANE Select | ENSP00000380793.3:p.Gly55= | |
| ENST00000397676.7:c.165C>T (ALG3) | ENSP00000380793.3:p.Gly55= | |
| ENST00000411922.5:c.165C>T (ALG3) | ENSP00000394917.1:p.Gly55= | |
| ENST00000414845.5:c.158C>T (ALG3) | ||
| ENST00000423996.5:c.159+6C>T (ALG3) | ENSP00000407011.1:n.159+6C>T | |
| ENST00000444495.1:c.2106+104069G>A (EIF2B5) | ENSP00000409142.1:n.2106+104069G>A | |
| ENST00000445626.6:c.52+450C>T (ALG3) | ENSP00000402744.2:n.52+450C>T | |
| ENST00000446569.1:c.154+6C>T (ALG3) | ||
| ENST00000455059.5:c.76+214C>T (ALG3) | ENSP00000397613.1:n.76+214C>T | |
| ENST00000461415.5:n.169+6C>T (ALG3) | ||
| ENST00000482048.1:n.154C>T (ALG3) | ||
| ENST00000488976.5:n.181+6C>T (ALG3) | ||
| NM_001006941.2:c.52+450C>T (ALG3) | NP_001006942.1:n.52+450C>T | |
| NM_005787.5:c.165C>T (ALG3) | NP_005778.1:p.Gly55= | |
| NR_024533.1:n.196C>T (ALG3) | ||
| NR_024534.1:n.190+6C>T (ALG3) | ||
| XM_011512323.1:c.76+214C>T (ALG3) | XP_011510625.1:n.76+214C>T | |
| XM_011512323.2:c.76+214C>T (ALG3) | XP_011510625.1:n.76+214C>T | |
| XM_024453296.1:c.-26-2964C>T (ALG3) | XP_024309064.1:n.-26-2964C>T | |
| NM_005787.6:c.165C>T (ALG3) MANE Select | NP_005778.1:p.Gly55= |