Linked Data
ClinVar Variation Id:
344359
ClinVar RCV Id:
RCV000360885
dbSNP Id:
rs371534425
ExAC:
3:183963409 A / G
gnomAD v2:
3-183963409-A-G
gnomAD v3:
3-184245621-A-G
gnomAD v4:
3-184245621-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184245621A>G , CM000665.2:g.184245621A>G | GRCh38 |
| NC_000003.11:g.183963409A>G , CM000665.1:g.183963409A>G | GRCh37 |
| NC_000003.10:g.185446103A>G | NCBI36 |
| NG_008924.2:g.8892T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397676.8:c.297-6T>C (ALG3) MANE Select | ENSP00000380793.3:n.297-6T>C | |
| ENST00000397676.7:c.297-6T>C (ALG3) | ENSP00000380793.3:n.297-6T>C | |
| ENST00000411922.5:c.197-6T>C (ALG3) | ENSP00000394917.1:n.197-6T>C | |
| ENST00000414845.5:c.190-6T>C (ALG3) | ||
| ENST00000423996.5:c.*62-6T>C (ALG3) | ENSP00000407011.1:n.*62-6T>C | |
| ENST00000444495.1:c.2106+100914A>G (EIF2B5) | ENSP00000409142.1:n.2106+100914A>G | |
| ENST00000445626.6:c.153-6T>C (ALG3) | ENSP00000402744.2:n.153-6T>C | |
| ENST00000446569.1:c.155-263T>C (ALG3) | ||
| ENST00000455059.5:c.177-6T>C (ALG3) | ENSP00000397613.1:n.177-6T>C | |
| ENST00000461415.5:n.270-6T>C (ALG3) | ||
| ENST00000482048.1:n.286-6T>C (ALG3) | ||
| ENST00000488976.5:n.182-6T>C (ALG3) | ||
| NM_001006941.2:c.153-6T>C (ALG3) | NP_001006942.1:n.153-6T>C | |
| NM_005787.5:c.297-6T>C (ALG3) | NP_005778.1:n.297-6T>C | |
| NR_024533.1:n.228-6T>C (ALG3) | ||
| NR_024534.1:n.291-6T>C (ALG3) | ||
| XM_011512322.1:c.198-6T>C (ALG3) | XP_011510624.1:n.198-6T>C | |
| XM_011512323.1:c.177-6T>C (ALG3) | XP_011510625.1:n.177-6T>C | |
| XM_011512323.2:c.177-6T>C (ALG3) | XP_011510625.1:n.177-6T>C | |
| XM_024453296.1:c.75-6T>C (ALG3) | XP_024309064.1:n.75-6T>C | |
| NM_005787.6:c.297-6T>C (ALG3) MANE Select | NP_005778.1:n.297-6T>C |