Linked Data
gnomAD v4:
10-73252017-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73252017A>C , CM000672.2:g.73252017A>C | GRCh38 |
| NC_000010.10:g.75011775A>C , CM000672.1:g.75011775A>C | GRCh37 |
| NC_000010.9:g.74681781A>C | NCBI36 |
| NG_008096.1:g.5677T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.20T>G (MRPS16) MANE Select | ENSP00000362036.3:p.Leu7Arg | |
| ENST00000372940.3:c.20T>G (MRPS16) | ENSP00000362031.3:p.Leu7Arg | |
| ENST00000372945.7:c.20T>G (MRPS16) | ENSP00000362036.3:p.Leu7Arg | |
| ENST00000471251.5:n.153T>G (MRPS16) | ||
| ENST00000473427.1:n.110T>G (MRPS16) | ||
| ENST00000479005.1:n.177T>G (MRPS16) | ||
| NM_016065.3:c.20T>G (MRPS16) | NP_057149.1:p.Leu7Arg | |
| NR_038373.1:n.175+3567A>C (DNAJC9-AS1) | ||
| XR_946059.1:n.120+276A>C | ||
| NM_016065.4:c.20T>G (MRPS16) MANE Select | NP_057149.1:p.Leu7Arg |