Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73249431G= , CM000672.2:g.73249431G= | GRCh38 |
| NC_000010.10:g.75009189G= , CM000672.1:g.75009189G= | GRCh37 |
| NC_000010.9:g.74679195G= | NCBI36 |
| NG_008096.1:g.8263C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.*1421C= (MRPS16) MANE Select | ENSP00000362036.3:n.*1421C= | |
| ENST00000372940.3:c.275-113C= (MRPS16) | ENSP00000362031.3:n.275-113C= | |
| ENST00000372945.7:c.*1421C= (MRPS16) | ENSP00000362036.3:n.*1421C= | |
| ENST00000479005.1:n.1992C= (MRPS16) | ||
| NM_016065.3:c.*1421C= (MRPS16) | NP_057149.1:n.*1421C= | |
| NR_038373.1:n.175+981G= (DNAJC9-AS1) | ||
| NM_016065.4:c.*1421C= (MRPS16) MANE Select | NP_057149.1:n.*1421C= |