Linked Data
ClinVar Variation Id:
344354
ClinVar RCV Id:
RCV000871461
dbSNP Id:
rs368253820
ExAC:
3:183962517 G / A
gnomAD v2:
3-183962517-G-A
gnomAD v3:
3-184244729-G-A
gnomAD v4:
3-184244729-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184244729G>A , CM000665.2:g.184244729G>A | GRCh38 |
| NC_000003.11:g.183962517G>A , CM000665.1:g.183962517G>A | GRCh37 |
| NC_000003.10:g.185445211G>A | NCBI36 |
| NG_008924.2:g.9784C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397676.8:c.606-8C>T (ALG3) MANE Select | ENSP00000380793.3:n.606-8C>T | |
| ENST00000397676.7:c.606-8C>T (ALG3) | ENSP00000380793.3:n.606-8C>T | |
| ENST00000411922.5:c.*182-8C>T (ALG3) | ENSP00000394917.1:n.*182-8C>T | |
| ENST00000414845.5:c.338-8C>T (ALG3) | ||
| ENST00000423996.5:c.*371-8C>T (ALG3) | ENSP00000407011.1:n.*371-8C>T | |
| ENST00000444495.1:c.2106+100022G>A (EIF2B5) | ENSP00000409142.1:n.2106+100022G>A | |
| ENST00000445626.6:c.462-8C>T (ALG3) | ENSP00000402744.2:n.462-8C>T | |
| ENST00000446569.1:c.316-8C>T (ALG3) | ||
| ENST00000455059.5:c.486-8C>T (ALG3) | ENSP00000397613.1:n.486-8C>T | |
| ENST00000462735.6:n.293C>T (ALG3) | ||
| ENST00000477959.1:n.146-8C>T (ALG3) | ||
| NM_001006941.2:c.462-8C>T (ALG3) | NP_001006942.1:n.462-8C>T | |
| NM_005787.5:c.606-8C>T (ALG3) | NP_005778.1:n.606-8C>T | |
| NR_024533.1:n.537-8C>T (ALG3) | ||
| NR_024534.1:n.600-8C>T (ALG3) | ||
| XM_011512322.1:c.507-8C>T (ALG3) | XP_011510624.1:n.507-8C>T | |
| XM_011512323.1:c.486-8C>T (ALG3) | XP_011510625.1:n.486-8C>T | |
| XM_011512323.2:c.486-8C>T (ALG3) | XP_011510625.1:n.486-8C>T | |
| XM_024453296.1:c.384-8C>T (ALG3) | XP_024309064.1:n.384-8C>T | |
| NM_005787.6:c.606-8C>T (ALG3) MANE Select | NP_005778.1:n.606-8C>T |