Linked Data
ClinVar Variation Id:
502711
dbSNP Id:
rs748878963
ExAC:
3:183963255 C / A
gnomAD v2:
3-183963255-C-A
gnomAD v4:
3-184245467-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184245467C>A , CM000665.2:g.184245467C>A | GRCh38 |
| NC_000003.11:g.183963255C>A , CM000665.1:g.183963255C>A | GRCh37 |
| NC_000003.10:g.185445949C>A | NCBI36 |
| NG_008924.2:g.9046G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397676.8:c.444+1G>T (ALG3) MANE Select | ENSP00000380793.3:n.444+1G>T | |
| ENST00000397676.7:c.444+1G>T (ALG3) | ENSP00000380793.3:n.444+1G>T | |
| ENST00000411922.5:c.*20+1G>T (ALG3) | ENSP00000394917.1:n.*20+1G>T | |
| ENST00000414845.5:c.337+1G>T (ALG3) | ||
| ENST00000423996.5:c.*209+1G>T (ALG3) | ENSP00000407011.1:n.*209+1G>T | |
| ENST00000444495.1:c.2106+100760C>A (EIF2B5) | ENSP00000409142.1:n.2106+100760C>A | |
| ENST00000445626.6:c.300+1G>T (ALG3) | ENSP00000402744.2:n.300+1G>T | |
| ENST00000446569.1:c.155-109G>T (ALG3) | ||
| ENST00000455059.5:c.324+1G>T (ALG3) | ENSP00000397613.1:n.324+1G>T | |
| ENST00000461415.5:n.417+1G>T (ALG3) | ||
| ENST00000482048.1:n.433+1G>T (ALG3) | ||
| ENST00000488976.5:n.329+1G>T (ALG3) | ||
| NM_001006941.2:c.300+1G>T (ALG3) | NP_001006942.1:n.300+1G>T | |
| NM_005787.5:c.444+1G>T (ALG3) | NP_005778.1:n.444+1G>T | |
| NR_024533.1:n.375+1G>T (ALG3) | ||
| NR_024534.1:n.438+1G>T (ALG3) | ||
| XM_011512322.1:c.345+1G>T (ALG3) | XP_011510624.1:n.345+1G>T | |
| XM_011512323.1:c.324+1G>T (ALG3) | XP_011510625.1:n.324+1G>T | |
| XM_011512323.2:c.324+1G>T (ALG3) | XP_011510625.1:n.324+1G>T | |
| XM_024453296.1:c.222+1G>T (ALG3) | XP_024309064.1:n.222+1G>T | |
| NM_005787.6:c.444+1G>T (ALG3) MANE Select | NP_005778.1:n.444+1G>T |