Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58219313C>T , CM000679.2:g.58219313C>T | GRCh38 |
| NC_000017.10:g.56296674C>T , CM000679.1:g.56296674C>T | GRCh37 |
| NC_000017.9:g.53651673C>T | NCBI36 |
| NG_013032.1:g.5293G>A , LRG_687:g.5293G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537529.7:c.-350+149G>A (MKS1) | ENSP00000442096.3:n.-350+149G>A | |
| ENST00000537529.6:c.50+149G>A (MKS1) | ENSP00000442096.2:n.50+149G>A | |
| ENST00000582328.5:c.-289+496C>T (LPO) | ENSP00000464636.1:n.-289+496C>T | |
| NM_001165927.1:c.50+149G>A , LRG_687t2:c.50+149G>A (MKS1) | NP_001159399.1:n.50+149G>A |