Linked Data
ClinVar Variation Id:
344353
dbSNP Id:
rs142901178
ExAC:
3:183961734 G / A
gnomAD v2:
3-183961734-G-A
gnomAD v3:
3-184243946-G-A
gnomAD v4:
3-184243946-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184243946G>A , CM000665.2:g.184243946G>A | GRCh38 |
| NC_000003.11:g.183961734G>A , CM000665.1:g.183961734G>A | GRCh37 |
| NC_000003.10:g.185444428G>A | NCBI36 |
| NG_008924.2:g.10567C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397676.8:c.777C>T (ALG3) MANE Select | ENSP00000380793.3:p.Ser259= | |
| ENST00000397676.7:c.777C>T (ALG3) | ENSP00000380793.3:p.Ser259= | |
| ENST00000411922.5:c.*353C>T (ALG3) | ENSP00000394917.1:n.*353C>T | |
| ENST00000414845.5:c.509C>T (ALG3) | ||
| ENST00000423996.5:c.*542C>T (ALG3) | ENSP00000407011.1:n.*542C>T | |
| ENST00000444495.1:c.2106+99239G>A (EIF2B5) | ENSP00000409142.1:n.2106+99239G>A | |
| ENST00000445626.6:c.633C>T (ALG3) | ENSP00000402744.2:p.Ser211= | |
| ENST00000446569.1:c.487C>T (ALG3) | ||
| ENST00000455059.5:c.657C>T (ALG3) | ENSP00000397613.1:p.Ser219= | |
| ENST00000462735.6:n.472C>T (ALG3) | ||
| ENST00000463495.5:n.51C>T (ALG3) | ||
| NM_001006941.2:c.633C>T (ALG3) | NP_001006942.1:p.Ser211= | |
| NM_005787.5:c.777C>T (ALG3) | NP_005778.1:p.Ser259= | |
| NR_024533.1:n.708C>T (ALG3) | ||
| NR_024534.1:n.771C>T (ALG3) | ||
| XM_011512322.1:c.678C>T (ALG3) | XP_011510624.1:p.Ser226= | |
| XM_011512323.1:c.657C>T (ALG3) | XP_011510625.1:p.Ser219= | |
| XM_011512323.2:c.657C>T (ALG3) | XP_011510625.1:p.Ser219= | |
| XM_024453296.1:c.555C>T (ALG3) | XP_024309064.1:p.Ser185= | |
| NM_005787.6:c.777C>T (ALG3) MANE Select | NP_005778.1:p.Ser259= |