Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52035102G>A , CM000675.2:g.52035102G>A | GRCh38 |
| NC_000013.10:g.52609238G>A , CM000675.1:g.52609238G>A | GRCh37 |
| NC_000013.9:g.51507239G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647945.2:c.*1846C>T (NEK5) | ENSP00000497892.1:n.*1846C>T | |
| ENST00000684899.1:c.*1846C>T (NEK5) MANE Select | ENSP00000509632.1:n.*1846C>T | |
| ENST00000649708.2:c.275+15959G>A (ALG11) | ENSP00000497459.2:n.275+15959G>A | |
| ENST00000652502.1:n.4008C>T (NEK5) | ||
| ENST00000679495.1:n.44+22640G>A (ALG11) | ||
| ENST00000529080.5:n.2549C>T (NEK5) | ||
| NM_001365552.1:c.*1846C>T (NEK5) MANE Select | NP_001352481.1:n.*1846C>T |