Linked Data
ClinVar Variation Id:
2605
ClinVar RCV Id:
RCV002444416
dbSNP Id:
rs28940279
ExAC:
17:3402294 A / C
gnomAD v2:
17-3402294-A-C
gnomAD v3:
17-3499000-A-C
gnomAD v4:
17-3499000-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3499000A>C , CM000679.2:g.3499000A>C | GRCh38 |
| NC_000017.10:g.3402294A>C , CM000679.1:g.3402294A>C | GRCh37 |
| NC_000017.9:g.3349044A>C | NCBI36 |
| NG_008399.1:g.29891A>C | |
| NG_008399.2:g.30355A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263080.3:c.854A>C (ASPA) MANE Select | ENSP00000263080.2:p.Glu285Ala | |
| ENST00000263080.2:c.854A>C (ASPA) | ENSP00000263080.2:p.Glu285Ala | |
| ENST00000456349.6:c.854A>C (ASPA) | ENSP00000409976.2:p.Glu285Ala | |
| ENST00000541913.5:c.-74+14412T>G (SPATA22) | ENSP00000441920.1:n.-74+14412T>G | |
| ENST00000570318.1:c.-74+14611T>G (SPATA22) | ENSP00000459147.1:n.-74+14611T>G | |
| NM_000049.2:c.854A>C (ASPA) | NP_000040.1:p.Glu285Ala | |
| NM_001128085.1:c.854A>C (ASPA) | NP_001121557.1:p.Glu285Ala | |
| XM_005256829.1:c.-74+14412T>G (SPATA22) | XP_005256886.1:n.-74+14412T>G | |
| XM_005256830.1:c.-74+14412T>G (SPATA22) | XP_005256887.1:n.-74+14412T>G | |
| XM_006721527.2:c.854A>C (ASPA) | XP_006721590.1:p.Glu285Ala | |
| NM_001321336.1:c.-74+14412T>G (SPATA22) | NP_001308265.1:n.-74+14412T>G | |
| NM_001321337.1:c.-74+14412T>G (SPATA22) | NP_001308266.1:n.-74+14412T>G | |
| XM_017024661.1:c.854A>C (ASPA) | XP_016880150.1:p.Glu285Ala | |
| XM_024450764.1:c.854A>C (ASPA) | XP_024306532.1:p.Glu285Ala | |
| XR_934026.2:n.1121A>C (ASPA) | ||
| NM_000049.3:c.854A>C (ASPA) | NP_000040.1:p.Glu285Ala | |
| NM_000049.4:c.854A>C (ASPA) MANE Select | NP_000040.1:p.Glu285Ala | |
| NM_001321336.2:c.-74+14412T>G (SPATA22) | NP_001308265.1:n.-74+14412T>G | |
| NM_001321337.2:c.-74+14412T>G (SPATA22) | NP_001308266.1:n.-74+14412T>G |