Linked Data
gnomAD v4:
10-73249472-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73249472G>T , CM000672.2:g.73249472G>T | GRCh38 |
| NC_000010.10:g.75009230G>T , CM000672.1:g.75009230G>T | GRCh37 |
| NC_000010.9:g.74679236G>T | NCBI36 |
| NG_008096.1:g.8222C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.*1380C>A (MRPS16) MANE Select | ENSP00000362036.3:n.*1380C>A | |
| ENST00000372940.3:c.275-154C>A (MRPS16) | ENSP00000362031.3:n.275-154C>A | |
| ENST00000372945.7:c.*1380C>A (MRPS16) | ENSP00000362036.3:n.*1380C>A | |
| ENST00000479005.1:n.1951C>A (MRPS16) | ||
| NM_016065.3:c.*1380C>A (MRPS16) | NP_057149.1:n.*1380C>A | |
| NR_038373.1:n.175+1022G>T (DNAJC9-AS1) | ||
| NM_016065.4:c.*1380C>A (MRPS16) MANE Select | NP_057149.1:n.*1380C>A |