Linked Data
ClinVar Variation Id:
1054881
ClinVar RCV Id:
RCV001363470
dbSNP Id:
rs1171334770
gnomAD v2:
3-183963041-G-A
gnomAD v4:
3-184245253-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184245253G>A , CM000665.2:g.184245253G>A | GRCh38 |
| NC_000003.11:g.183963041G>A , CM000665.1:g.183963041G>A | GRCh37 |
| NC_000003.10:g.185445735G>A | NCBI36 |
| NG_008924.2:g.9260C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397676.8:c.550C>T (ALG3) MANE Select | ENSP00000380793.3:p.Leu184Phe | |
| ENST00000397676.7:c.550C>T (ALG3) | ENSP00000380793.3:p.Leu184Phe | |
| ENST00000411922.5:c.*126C>T (ALG3) | ENSP00000394917.1:n.*126C>T | |
| ENST00000414845.5:c.337+215C>T (ALG3) | ||
| ENST00000423996.5:c.*315C>T (ALG3) | ENSP00000407011.1:n.*315C>T | |
| ENST00000444495.1:c.2106+100546G>A (EIF2B5) | ENSP00000409142.1:n.2106+100546G>A | |
| ENST00000445626.6:c.406C>T (ALG3) | ENSP00000402744.2:p.Leu136Phe | |
| ENST00000446569.1:c.260C>T (ALG3) | ||
| ENST00000455059.5:c.430C>T (ALG3) | ENSP00000397613.1:p.Leu144Phe | |
| ENST00000461415.5:n.523C>T (ALG3) | ||
| ENST00000477959.1:n.90C>T (ALG3) | ||
| ENST00000482048.1:n.539C>T (ALG3) | ||
| ENST00000488976.5:n.435C>T (ALG3) | ||
| NM_001006941.2:c.406C>T (ALG3) | NP_001006942.1:p.Leu136Phe | |
| NM_005787.5:c.550C>T (ALG3) | NP_005778.1:p.Leu184Phe | |
| NR_024533.1:n.481C>T (ALG3) | ||
| NR_024534.1:n.544C>T (ALG3) | ||
| XM_011512322.1:c.451C>T (ALG3) | XP_011510624.1:p.Leu151Phe | |
| XM_011512323.1:c.430C>T (ALG3) | XP_011510625.1:p.Leu144Phe | |
| XM_011512323.2:c.430C>T (ALG3) | XP_011510625.1:p.Leu144Phe | |
| XM_024453296.1:c.328C>T (ALG3) | XP_024309064.1:p.Leu110Phe | |
| NM_005787.6:c.550C>T (ALG3) MANE Select | NP_005778.1:p.Leu184Phe |