Revel Score:
ENST00000372945 (MANE Select)
0.191
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73250935G>C , CM000672.2:g.73250935G>C | GRCh38 |
| NC_000010.10:g.75010693G>C , CM000672.1:g.75010693G>C | GRCh37 |
| NC_000010.9:g.74680699G>C | NCBI36 |
| NG_008096.1:g.6759C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.331C>G (MRPS16) MANE Select | ENSP00000362036.3:p.Arg111Gly | |
| ENST00000372940.3:c.274+828C>G (MRPS16) | ENSP00000362031.3:n.274+828C>G | |
| ENST00000372945.7:c.331C>G (MRPS16) | ENSP00000362036.3:p.Arg111Gly | |
| ENST00000471251.5:n.464C>G (MRPS16) | ||
| ENST00000473427.1:n.421C>G (MRPS16) | ||
| ENST00000479005.1:n.488C>G (MRPS16) | ||
| NM_016065.3:c.331C>G (MRPS16) | NP_057149.1:p.Arg111Gly | |
| NR_038373.1:n.175+2485G>C (DNAJC9-AS1) | ||
| NM_016065.4:c.331C>G (MRPS16) MANE Select | NP_057149.1:p.Arg111Gly |