Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52035137G>T , CM000675.2:g.52035137G>T | GRCh38 |
| NC_000013.10:g.52609273G>T , CM000675.1:g.52609273G>T | GRCh37 |
| NC_000013.9:g.51507274G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647945.2:c.*1811C>A (NEK5) | ENSP00000497892.1:n.*1811C>A | |
| ENST00000684899.1:c.*1811C>A (NEK5) MANE Select | ENSP00000509632.1:n.*1811C>A | |
| ENST00000649708.2:c.275+15994G>T (ALG11) | ENSP00000497459.2:n.275+15994G>T | |
| ENST00000652502.1:n.3973C>A (NEK5) | ||
| ENST00000679495.1:n.44+22675G>T (ALG11) | ||
| ENST00000529080.5:n.2514C>A (NEK5) | ||
| NM_001365552.1:c.*1811C>A (NEK5) MANE Select | NP_001352481.1:n.*1811C>A |