Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58219311G>T , CM000679.2:g.58219311G>T | GRCh38 |
| NC_000017.10:g.56296672G>T , CM000679.1:g.56296672G>T | GRCh37 |
| NC_000017.9:g.53651671G>T | NCBI36 |
| NG_013032.1:g.5295C>A , LRG_687:g.5295C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537529.7:c.-350+151C>A (MKS1) | ENSP00000442096.3:n.-350+151C>A | |
| ENST00000537529.6:c.50+151C>A (MKS1) | ENSP00000442096.2:n.50+151C>A | |
| ENST00000582328.5:c.-289+494G>T (LPO) | ENSP00000464636.1:n.-289+494G>T | |
| NM_001165927.1:c.50+151C>A , LRG_687t2:c.50+151C>A (MKS1) | NP_001159399.1:n.50+151C>A |