Linked Data
ClinVar Variation Id:
1995095
ClinVar RCV Id:
RCV002791626
dbSNP Id:
rs1317569684
gnomAD v3:
10-73251888-T-A
gnomAD v4:
10-73251888-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73251888T>A , CM000672.2:g.73251888T>A | GRCh38 |
| NC_000010.10:g.75011646T>A , CM000672.1:g.75011646T>A | GRCh37 |
| NC_000010.9:g.74681652T>A | NCBI36 |
| NG_008096.1:g.5806A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.149A>T (MRPS16) MANE Select | ENSP00000362036.3:p.Gln50Leu | |
| ENST00000372940.3:c.149A>T (MRPS16) | ENSP00000362031.3:p.Gln50Leu | |
| ENST00000372945.7:c.149A>T (MRPS16) | ENSP00000362036.3:p.Gln50Leu | |
| ENST00000471251.5:n.282A>T (MRPS16) | ||
| ENST00000473427.1:n.239A>T (MRPS16) | ||
| ENST00000479005.1:n.306A>T (MRPS16) | ||
| NM_016065.3:c.149A>T (MRPS16) | NP_057149.1:p.Gln50Leu | |
| NR_038373.1:n.175+3438T>A (DNAJC9-AS1) | ||
| XR_946059.1:n.120+147T>A | ||
| NM_016065.4:c.149A>T (MRPS16) MANE Select | NP_057149.1:p.Gln50Leu |