Linked Data
ClinVar Variation Id:
344352
dbSNP Id:
rs2233466
ExAC:
3:183961666 G / A
gnomAD v2:
3-183961666-G-A
gnomAD v3:
3-184243878-G-A
gnomAD v4:
3-184243878-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184243878G>A , CM000665.2:g.184243878G>A | GRCh38 |
| NC_000003.11:g.183961666G>A , CM000665.1:g.183961666G>A | GRCh37 |
| NC_000003.10:g.185444360G>A | NCBI36 |
| NG_008924.2:g.10635C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397676.8:c.845C>T (ALG3) MANE Select | ENSP00000380793.3:p.Ala282Val | |
| ENST00000397676.7:c.845C>T (ALG3) | ENSP00000380793.3:p.Ala282Val | |
| ENST00000411922.5:c.*421C>T (ALG3) | ENSP00000394917.1:n.*421C>T | |
| ENST00000414845.5:c.577C>T (ALG3) | ||
| ENST00000423996.5:c.*610C>T (ALG3) | ENSP00000407011.1:n.*610C>T | |
| ENST00000444495.1:c.2106+99171G>A (EIF2B5) | ENSP00000409142.1:n.2106+99171G>A | |
| ENST00000445626.6:c.701C>T (ALG3) | ENSP00000402744.2:p.Ala234Val | |
| ENST00000446569.1:c.555C>T (ALG3) | ||
| ENST00000455059.5:c.725C>T (ALG3) | ENSP00000397613.1:p.Ala242Val | |
| ENST00000462735.6:n.540C>T (ALG3) | ||
| ENST00000463495.5:n.119C>T (ALG3) | ||
| NM_001006941.2:c.701C>T (ALG3) | NP_001006942.1:p.Ala234Val | |
| NM_005787.5:c.845C>T (ALG3) | NP_005778.1:p.Ala282Val | |
| NR_024533.1:n.776C>T (ALG3) | ||
| NR_024534.1:n.839C>T (ALG3) | ||
| XM_011512322.1:c.746C>T (ALG3) | XP_011510624.1:p.Ala249Val | |
| XM_011512323.1:c.725C>T (ALG3) | XP_011510625.1:p.Ala242Val | |
| XM_011512323.2:c.725C>T (ALG3) | XP_011510625.1:p.Ala242Val | |
| XM_024453296.1:c.623C>T (ALG3) | XP_024309064.1:p.Ala208Val | |
| NM_005787.6:c.845C>T (ALG3) MANE Select | NP_005778.1:p.Ala282Val |