Linked Data
dbSNP Id:
rs759976840
ExAC:
17:3385063 T / A
gnomAD v2:
17-3385063-T-A
gnomAD v4:
17-3481769-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3481769T>A , CM000679.2:g.3481769T>A | GRCh38 |
| NC_000017.10:g.3385063T>A , CM000679.1:g.3385063T>A | GRCh37 |
| NC_000017.9:g.3331813T>A | NCBI36 |
| NG_008399.1:g.12660T>A | |
| NG_008399.2:g.13124T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263080.3:c.403T>A (ASPA) MANE Select | ENSP00000263080.2:p.Phe135Ile | |
| ENST00000263080.2:c.403T>A (ASPA) | ENSP00000263080.2:p.Phe135Ile | |
| ENST00000456349.6:c.403T>A (ASPA) | ENSP00000409976.2:p.Phe135Ile | |
| ENST00000541913.5:c.-73-12371A>T (SPATA22) | ENSP00000441920.1:n.-73-12371A>T | |
| ENST00000570318.1:c.-73-12371A>T (SPATA22) | ENSP00000459147.1:n.-73-12371A>T | |
| ENST00000571278.1:c.*137T>A (ASPA) | ENSP00000461358.1:n.*137T>A | |
| NM_000049.2:c.403T>A (ASPA) | NP_000040.1:p.Phe135Ile | |
| NM_001128085.1:c.403T>A (ASPA) | NP_001121557.1:p.Phe135Ile | |
| XM_005256829.1:c.-73-12371A>T (SPATA22) | XP_005256886.1:n.-73-12371A>T | |
| XM_005256830.1:c.-73-12371A>T (SPATA22) | XP_005256887.1:n.-73-12371A>T | |
| XM_006721527.2:c.403T>A (ASPA) | XP_006721590.1:p.Phe135Ile | |
| XR_934026.1:n.578T>A (ASPA) | ||
| NM_001321336.1:c.-73-12371A>T (SPATA22) | NP_001308265.1:n.-73-12371A>T | |
| NM_001321337.1:c.-73-12371A>T (SPATA22) | NP_001308266.1:n.-73-12371A>T | |
| XM_017024661.1:c.403T>A (ASPA) | XP_016880150.1:p.Phe135Ile | |
| XM_024450764.1:c.403T>A (ASPA) | XP_024306532.1:p.Phe135Ile | |
| XR_934026.2:n.578T>A (ASPA) | ||
| NM_000049.3:c.403T>A (ASPA) | NP_000040.1:p.Phe135Ile | |
| NM_000049.4:c.403T>A (ASPA) MANE Select | NP_000040.1:p.Phe135Ile | |
| NM_001321336.2:c.-73-12371A>T (SPATA22) | NP_001308265.1:n.-73-12371A>T | |
| NM_001321337.2:c.-73-12371A>T (SPATA22) | NP_001308266.1:n.-73-12371A>T |