Linked Data
dbSNP Id:
rs749567648
ExAC:
3:183962917 G / A
gnomAD v2:
3-183962917-G-A
gnomAD v3:
3-184245129-G-A
gnomAD v4:
3-184245129-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184245129G>A , CM000665.2:g.184245129G>A | GRCh38 |
| NC_000003.11:g.183962917G>A , CM000665.1:g.183962917G>A | GRCh37 |
| NC_000003.10:g.185445611G>A | NCBI36 |
| NG_008924.2:g.9384C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397676.8:c.605+69C>T (ALG3) MANE Select | ENSP00000380793.3:n.605+69C>T | |
| ENST00000397676.7:c.605+69C>T (ALG3) | ENSP00000380793.3:n.605+69C>T | |
| ENST00000411922.5:c.*181+69C>T (ALG3) | ENSP00000394917.1:n.*181+69C>T | |
| ENST00000414845.5:c.337+339C>T (ALG3) | ||
| ENST00000423996.5:c.*370+69C>T (ALG3) | ENSP00000407011.1:n.*370+69C>T | |
| ENST00000444495.1:c.2106+100422G>A (EIF2B5) | ENSP00000409142.1:n.2106+100422G>A | |
| ENST00000445626.6:c.461+69C>T (ALG3) | ENSP00000402744.2:n.461+69C>T | |
| ENST00000446569.1:c.315+69C>T (ALG3) | ||
| ENST00000455059.5:c.485+69C>T (ALG3) | ENSP00000397613.1:n.485+69C>T | |
| ENST00000461415.5:n.647C>T (ALG3) | ||
| ENST00000477959.1:n.145+69C>T (ALG3) | ||
| ENST00000482048.1:n.663C>T (ALG3) | ||
| ENST00000488976.5:n.559C>T (ALG3) | ||
| NM_001006941.2:c.461+69C>T (ALG3) | NP_001006942.1:n.461+69C>T | |
| NM_005787.5:c.605+69C>T (ALG3) | NP_005778.1:n.605+69C>T | |
| NR_024533.1:n.536+69C>T (ALG3) | ||
| NR_024534.1:n.599+69C>T (ALG3) | ||
| XM_011512322.1:c.506+69C>T (ALG3) | XP_011510624.1:n.506+69C>T | |
| XM_011512323.1:c.485+69C>T (ALG3) | XP_011510625.1:n.485+69C>T | |
| XM_011512323.2:c.485+69C>T (ALG3) | XP_011510625.1:n.485+69C>T | |
| XM_024453296.1:c.383+69C>T (ALG3) | XP_024309064.1:n.383+69C>T | |
| NM_005787.6:c.605+69C>T (ALG3) MANE Select | NP_005778.1:n.605+69C>T |