Linked Data
ClinVar Variation Id:
1246188
ClinVar RCV Id:
RCV001654280
dbSNP Id:
rs56246296
gnomAD v2:
17-76420437-T-A
gnomAD v3:
17-78424356-T-A
gnomAD v4:
17-78424356-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78424356T>A , CM000679.2:g.78424356T>A | GRCh38 |
| NC_000017.10:g.76420437T>A , CM000679.1:g.76420437T>A | GRCh37 |
| NC_000017.9:g.73932032T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262764.11:c.*306T>A (PGS1) MANE Select | ENSP00000262764.5:n.*306T>A | |
| ENST00000389840.7:c.13142-203A>T (DNAH17) MANE Select | ENSP00000374490.6:n.13142-203A>T | |
| ENST00000262764.10:c.*306T>A (PGS1) | ENSP00000262764.5:n.*306T>A | |
| ENST00000389840.6:c.13142-203A>T (DNAH17) | ENSP00000374490.6:n.13142-203A>T | |
| ENST00000585328.5:c.13127-203A>T (DNAH17) | ENSP00000465516.1:n.13127-203A>T | |
| ENST00000586052.5:n.6303-203A>T (DNAH17) | ||
| ENST00000586880.1:n.234+164T>A (PGS1) | ||
| ENST00000588281.5:n.1575T>A (PGS1) | ||
| ENST00000589425.5:c.*1576T>A (PGS1) | ENSP00000465278.1:n.*1576T>A | |
| ENST00000589426.5:c.*461T>A (PGS1) | ENSP00000468431.1:n.*461T>A | |
| ENST00000590227.5:n.2816-203A>T (DNAH17) | ||
| ENST00000591369.5:c.4764-203A>T (DNAH17) | ||
| NM_024419.4:c.*306T>A (PGS1) | NP_077733.3:n.*306T>A | |
| NM_173628.3:c.13142-203A>T (DNAH17) | NP_775899.3:n.13142-203A>T | |
| NR_110601.1:n.1874T>A (PGS1) | ||
| NR_110602.1:n.1959T>A (PGS1) | ||
| NR_111989.1:n.1777T>A (PGS1) | ||
| XM_011525416.1:c.13154-203A>T (DNAH17) | XP_011523718.1:n.13154-203A>T | |
| XM_011525418.1:c.6521-203A>T (DNAH17) | XP_011523720.1:n.6521-203A>T | |
| XM_011525487.1:c.2247T>A (PGS1) | XP_011523789.1:n.2247T>A | |
| XR_429930.1:n.1964T>A (PGS1) | ||
| XR_934604.1:n.2297T>A (PGS1) | ||
| XR_934607.1:n.2219T>A (PGS1) | ||
| XM_011525416.2:c.13154-203A>T (DNAH17) | XP_011523718.1:n.13154-203A>T | |
| XM_011525487.2:c.*306T>A (PGS1) | XP_011523789.1:n.*306T>A | |
| XM_011525488.2:c.*333T>A (PGS1) | XP_011523790.1:n.*333T>A | |
| XM_011525489.2:c.*4846T>A (PGS1) | XP_011523791.1:n.*4846T>A | |
| XM_017025261.2:c.6488-203A>T (DNAH17) | XP_016880750.1:n.6488-203A>T | |
| XM_017025357.1:c.*4691T>A (PGS1) | XP_016880846.1:n.*4691T>A | |
| XM_017025358.1:c.*4153T>A (PGS1) | XP_016880847.1:n.*4153T>A | |
| XM_017025359.1:c.*4127T>A (PGS1) | XP_016880848.1:n.*4127T>A | |
| XM_017025360.1:c.*4180T>A (PGS1) | XP_016880849.1:n.*4180T>A | |
| XM_017025361.2:c.*4691T>A (PGS1) | XP_016880850.1:n.*4691T>A | |
| XM_017025362.2:c.*4153T>A (PGS1) | XP_016880851.1:n.*4153T>A | |
| XM_017025363.1:c.*306T>A (PGS1) | XP_016880852.1:n.*306T>A | |
| XM_017025364.2:c.*4691T>A (PGS1) | XP_016880853.1:n.*4691T>A | |
| XM_017025365.1:c.*306T>A (PGS1) | XP_016880854.1:n.*306T>A | |
| XM_017025366.2:c.*333T>A (PGS1) | XP_016880855.1:n.*333T>A | |
| XM_024451013.1:c.13010-203A>T (DNAH17) | XP_024306781.1:n.13010-203A>T | |
| XR_001752683.1:n.6297T>A (PGS1) | ||
| XR_001752684.1:n.2377T>A (PGS1) | ||
| XR_001752685.1:n.2329T>A (PGS1) | ||
| XR_001752686.1:n.2437T>A (PGS1) | ||
| XR_001752687.2:n.2070T>A (PGS1) | ||
| XR_001752688.2:n.2130T>A (PGS1) | ||
| XR_001752689.2:n.2074T>A (PGS1) | ||
| XR_001752690.2:n.1997T>A (PGS1) | ||
| XR_001752691.2:n.1947T>A (PGS1) | ||
| XR_001752692.2:n.2057T>A (PGS1) | ||
| XR_429930.3:n.1964T>A (PGS1) | ||
| XR_934604.2:n.2450T>A (PGS1) | ||
| XR_934606.2:n.2510T>A (PGS1) | ||
| XR_934607.2:n.2372T>A (PGS1) | ||
| XR_934609.2:n.2487T>A (PGS1) | ||
| NM_024419.5:c.*306T>A (PGS1) MANE Select | NP_077733.3:n.*306T>A | |
| NM_173628.4:c.13142-203A>T (DNAH17) MANE Select | NP_775899.3:n.13142-203A>T | |
| NR_110601.2:n.1843T>A (PGS1) | ||
| NR_110602.2:n.1928T>A (PGS1) | ||
| NR_111989.2:n.1746T>A (PGS1) |