Linked Data
ClinVar Variation Id:
699687
dbSNP Id:
rs528179434
ExAC:
17:3397646 A / G
gnomAD v2:
17-3397646-A-G
gnomAD v3:
17-3494352-A-G
gnomAD v4:
17-3494352-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3494352A>G , CM000679.2:g.3494352A>G | GRCh38 |
| NC_000017.10:g.3397646A>G , CM000679.1:g.3397646A>G | GRCh37 |
| NC_000017.9:g.3344396A>G | NCBI36 |
| NG_008399.1:g.25243A>G | |
| NG_008399.2:g.25707A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263080.3:c.637A>G (ASPA) MANE Select | ENSP00000263080.2:p.Lys213Glu | |
| ENST00000263080.2:c.637A>G (ASPA) | ENSP00000263080.2:p.Lys213Glu | |
| ENST00000456349.6:c.637A>G (ASPA) | ENSP00000409976.2:p.Lys213Glu | |
| ENST00000541913.5:c.-74+19060T>C (SPATA22) | ENSP00000441920.1:n.-74+19060T>C | |
| ENST00000570318.1:c.-74+19259T>C (SPATA22) | ENSP00000459147.1:n.-74+19259T>C | |
| NM_000049.2:c.637A>G (ASPA) | NP_000040.1:p.Lys213Glu | |
| NM_001128085.1:c.637A>G (ASPA) | NP_001121557.1:p.Lys213Glu | |
| XM_005256829.1:c.-74+19060T>C (SPATA22) | XP_005256886.1:n.-74+19060T>C | |
| XM_005256830.1:c.-74+19060T>C (SPATA22) | XP_005256887.1:n.-74+19060T>C | |
| XM_006721527.2:c.637A>G (ASPA) | XP_006721590.1:p.Lys213Glu | |
| XR_934026.1:n.812A>G (ASPA) | ||
| NM_001321336.1:c.-74+19060T>C (SPATA22) | NP_001308265.1:n.-74+19060T>C | |
| NM_001321337.1:c.-74+19060T>C (SPATA22) | NP_001308266.1:n.-74+19060T>C | |
| XM_017024661.1:c.637A>G (ASPA) | XP_016880150.1:p.Lys213Glu | |
| XM_024450764.1:c.637A>G (ASPA) | XP_024306532.1:p.Lys213Glu | |
| XR_934026.2:n.812A>G (ASPA) | ||
| NM_000049.3:c.637A>G (ASPA) | NP_000040.1:p.Lys213Glu | |
| NM_000049.4:c.637A>G (ASPA) MANE Select | NP_000040.1:p.Lys213Glu | |
| NM_001321336.2:c.-74+19060T>C (SPATA22) | NP_001308265.1:n.-74+19060T>C | |
| NM_001321337.2:c.-74+19060T>C (SPATA22) | NP_001308266.1:n.-74+19060T>C |