Linked Data
ClinVar Variation Id:
1563591
ClinVar RCV Id:
RCV002209339
dbSNP Id:
rs1278404446
gnomAD v2:
17-3385032-C-T
gnomAD v3:
17-3481738-C-T
gnomAD v4:
17-3481738-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3481738C>T , CM000679.2:g.3481738C>T | GRCh38 |
| NC_000017.10:g.3385032C>T , CM000679.1:g.3385032C>T | GRCh37 |
| NC_000017.9:g.3331782C>T | NCBI36 |
| NG_008399.1:g.12629C>T | |
| NG_008399.2:g.13093C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263080.3:c.372C>T (ASPA) MANE Select | ENSP00000263080.2:p.Cys124= | |
| ENST00000263080.2:c.372C>T (ASPA) | ENSP00000263080.2:p.Cys124= | |
| ENST00000456349.6:c.372C>T (ASPA) | ENSP00000409976.2:p.Cys124= | |
| ENST00000541913.5:c.-73-12340G>A (SPATA22) | ENSP00000441920.1:n.-73-12340G>A | |
| ENST00000570318.1:c.-73-12340G>A (SPATA22) | ENSP00000459147.1:n.-73-12340G>A | |
| ENST00000571278.1:c.*106C>T (ASPA) | ENSP00000461358.1:n.*106C>T | |
| NM_000049.2:c.372C>T (ASPA) | NP_000040.1:p.Cys124= | |
| NM_001128085.1:c.372C>T (ASPA) | NP_001121557.1:p.Cys124= | |
| XM_005256829.1:c.-73-12340G>A (SPATA22) | XP_005256886.1:n.-73-12340G>A | |
| XM_005256830.1:c.-73-12340G>A (SPATA22) | XP_005256887.1:n.-73-12340G>A | |
| XM_006721527.2:c.372C>T (ASPA) | XP_006721590.1:p.Cys124= | |
| XR_934026.1:n.547C>T (ASPA) | ||
| NM_001321336.1:c.-73-12340G>A (SPATA22) | NP_001308265.1:n.-73-12340G>A | |
| NM_001321337.1:c.-73-12340G>A (SPATA22) | NP_001308266.1:n.-73-12340G>A | |
| XM_017024661.1:c.372C>T (ASPA) | XP_016880150.1:p.Cys124= | |
| XM_024450764.1:c.372C>T (ASPA) | XP_024306532.1:p.Cys124= | |
| XR_934026.2:n.547C>T (ASPA) | ||
| NM_000049.3:c.372C>T (ASPA) | NP_000040.1:p.Cys124= | |
| NM_000049.4:c.372C>T (ASPA) MANE Select | NP_000040.1:p.Cys124= | |
| NM_001321336.2:c.-73-12340G>A (SPATA22) | NP_001308265.1:n.-73-12340G>A | |
| NM_001321337.2:c.-73-12340G>A (SPATA22) | NP_001308266.1:n.-73-12340G>A |