Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73251841C>T , CM000672.2:g.73251841C>T | GRCh38 |
| NC_000010.10:g.75011599C>T , CM000672.1:g.75011599C>T | GRCh37 |
| NC_000010.9:g.74681605C>T | NCBI36 |
| NG_008096.1:g.5853G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.196G>A (MRPS16) MANE Select | ENSP00000362036.3:p.Val66Ile | |
| ENST00000372940.3:c.196G>A (MRPS16) | ENSP00000362031.3:p.Val66Ile | |
| ENST00000372945.7:c.196G>A (MRPS16) | ENSP00000362036.3:p.Val66Ile | |
| ENST00000471251.5:n.329G>A (MRPS16) | ||
| ENST00000473427.1:n.286G>A (MRPS16) | ||
| ENST00000479005.1:n.353G>A (MRPS16) | ||
| NM_016065.3:c.196G>A (MRPS16) | NP_057149.1:p.Val66Ile | |
| NR_038373.1:n.175+3391C>T (DNAJC9-AS1) | ||
| XR_946059.1:n.120+100C>T | ||
| NM_016065.4:c.196G>A (MRPS16) MANE Select | NP_057149.1:p.Val66Ile |