Linked Data
ClinVar Variation Id:
2111850
ClinVar RCV Id:
RCV003022728
MyVariant Identifiers:
chr3:g.183963012G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184245224G>A , CM000665.2:g.184245224G>A | GRCh38 |
| NC_000003.11:g.183963012G>A , CM000665.1:g.183963012G>A | GRCh37 |
| NC_000003.10:g.185445706G>A | NCBI36 |
| NG_008924.2:g.9289C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397676.8:c.579C>T (ALG3) MANE Select | ENSP00000380793.3:p.Arg193= | |
| ENST00000397676.7:c.579C>T (ALG3) | ENSP00000380793.3:p.Arg193= | |
| ENST00000411922.5:c.*155C>T (ALG3) | ENSP00000394917.1:n.*155C>T | |
| ENST00000414845.5:c.337+244C>T (ALG3) | ||
| ENST00000423996.5:c.*344C>T (ALG3) | ENSP00000407011.1:n.*344C>T | |
| ENST00000444495.1:c.2106+100517G>A (EIF2B5) | ENSP00000409142.1:n.2106+100517G>A | |
| ENST00000445626.6:c.435C>T (ALG3) | ENSP00000402744.2:p.Arg145= | |
| ENST00000446569.1:c.289C>T (ALG3) | ||
| ENST00000455059.5:c.459C>T (ALG3) | ENSP00000397613.1:p.Arg153= | |
| ENST00000461415.5:n.552C>T (ALG3) | ||
| ENST00000477959.1:n.119C>T (ALG3) | ||
| ENST00000482048.1:n.568C>T (ALG3) | ||
| ENST00000488976.5:n.464C>T (ALG3) | ||
| NM_001006941.2:c.435C>T (ALG3) | NP_001006942.1:p.Arg145= | |
| NM_005787.5:c.579C>T (ALG3) | NP_005778.1:p.Arg193= | |
| NR_024533.1:n.510C>T (ALG3) | ||
| NR_024534.1:n.573C>T (ALG3) | ||
| XM_011512322.1:c.480C>T (ALG3) | XP_011510624.1:p.Arg160= | |
| XM_011512323.1:c.459C>T (ALG3) | XP_011510625.1:p.Arg153= | |
| XM_011512323.2:c.459C>T (ALG3) | XP_011510625.1:p.Arg153= | |
| XM_024453296.1:c.357C>T (ALG3) | XP_024309064.1:p.Arg119= | |
| NM_005787.6:c.579C>T (ALG3) MANE Select | NP_005778.1:p.Arg193= |