Linked Data
gnomAD v4:
10-73249550-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73249550G>A , CM000672.2:g.73249550G>A | GRCh38 |
| NC_000010.10:g.75009308G>A , CM000672.1:g.75009308G>A | GRCh37 |
| NC_000010.9:g.74679314G>A | NCBI36 |
| NG_008096.1:g.8144C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.*1302C>T (MRPS16) MANE Select | ENSP00000362036.3:n.*1302C>T | |
| ENST00000372940.3:c.275-232C>T (MRPS16) | ENSP00000362031.3:n.275-232C>T | |
| ENST00000372945.7:c.*1302C>T (MRPS16) | ENSP00000362036.3:n.*1302C>T | |
| ENST00000479005.1:n.1873C>T (MRPS16) | ||
| NM_016065.3:c.*1302C>T (MRPS16) | NP_057149.1:n.*1302C>T | |
| NR_038373.1:n.175+1100G>A (DNAJC9-AS1) | ||
| NM_016065.4:c.*1302C>T (MRPS16) MANE Select | NP_057149.1:n.*1302C>T |