Linked Data
dbSNP Id:
rs1397969486
gnomAD v2:
10-75011637-G-A
gnomAD v3:
10-73251879-G-A
gnomAD v4:
10-73251879-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73251879G>A , CM000672.2:g.73251879G>A | GRCh38 |
| NC_000010.10:g.75011637G>A , CM000672.1:g.75011637G>A | GRCh37 |
| NC_000010.9:g.74681643G>A | NCBI36 |
| NG_008096.1:g.5815C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.158C>T (MRPS16) MANE Select | ENSP00000362036.3:p.Ser53Phe | |
| ENST00000372940.3:c.158C>T (MRPS16) | ENSP00000362031.3:p.Ser53Phe | |
| ENST00000372945.7:c.158C>T (MRPS16) | ENSP00000362036.3:p.Ser53Phe | |
| ENST00000471251.5:n.291C>T (MRPS16) | ||
| ENST00000473427.1:n.248C>T (MRPS16) | ||
| ENST00000479005.1:n.315C>T (MRPS16) | ||
| NM_016065.3:c.158C>T (MRPS16) | NP_057149.1:p.Ser53Phe | |
| NR_038373.1:n.175+3429G>A (DNAJC9-AS1) | ||
| XR_946059.1:n.120+138G>A | ||
| NM_016065.4:c.158C>T (MRPS16) MANE Select | NP_057149.1:p.Ser53Phe |