Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73251873T>G , CM000672.2:g.73251873T>G | GRCh38 |
| NC_000010.10:g.75011631T>G , CM000672.1:g.75011631T>G | GRCh37 |
| NC_000010.9:g.74681637T>G | NCBI36 |
| NG_008096.1:g.5821A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.164A>C (MRPS16) MANE Select | ENSP00000362036.3:p.Asp55Ala | |
| ENST00000372940.3:c.164A>C (MRPS16) | ENSP00000362031.3:p.Asp55Ala | |
| ENST00000372945.7:c.164A>C (MRPS16) | ENSP00000362036.3:p.Asp55Ala | |
| ENST00000471251.5:n.297A>C (MRPS16) | ||
| ENST00000473427.1:n.254A>C (MRPS16) | ||
| ENST00000479005.1:n.321A>C (MRPS16) | ||
| NM_016065.3:c.164A>C (MRPS16) | NP_057149.1:p.Asp55Ala | |
| NR_038373.1:n.175+3423T>G (DNAJC9-AS1) | ||
| XR_946059.1:n.120+132T>G | ||
| NM_016065.4:c.164A>C (MRPS16) MANE Select | NP_057149.1:p.Asp55Ala |