Revel Score:
ENST00000464845 (MANE Select)
0.435
ENST00000370015
0.435
ENST00000393712
0.435
ENST00000432089
0.435
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153932111G>A , CM000685.2:g.153932111G>A | GRCh38 |
| NC_000023.10:g.153197564G>A , CM000685.1:g.153197564G>A | GRCh37 |
| NC_000023.9:g.152850758G>A | NCBI36 |
| NG_031987.1:g.8044C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477750.6:n.722C>T (NAA10) | ||
| ENST00000700299.1:n.464C>T (NAA10) | ||
| ENST00000464845.6:c.346C>T (NAA10) MANE Select | ENSP00000417763.1:p.Arg116Trp | |
| ENST00000370009.5:c.341+205C>T (NAA10) | ENSP00000359026.1:n.341+205C>T | |
| ENST00000370011.7:c.323+205C>T (NAA10) | ENSP00000359028.3:n.323+205C>T | |
| ENST00000370015.8:c.346C>T (NAA10) | ENSP00000359032.4:p.Arg116Trp | |
| ENST00000393710.7:n.457C>T (NAA10) | ||
| ENST00000393712.7:c.346C>T (NAA10) | ENSP00000377315.3:p.Arg116Trp | |
| ENST00000432089.1:c.328C>T (NAA10) | ENSP00000413668.1:p.Arg110Trp | |
| ENST00000460996.5:n.635C>T (NAA10) | ||
| ENST00000464845.5:c.346C>T (NAA10) | ENSP00000417763.1:p.Arg116Trp | |
| ENST00000466877.5:n.657C>T (NAA10) | ||
| ENST00000467451.1:n.148C>T (NAA10) | ||
| ENST00000477750.5:n.722C>T (NAA10) | ||
| ENST00000477882.1:n.765C>T (NAA10) | ||
| ENST00000484950.5:n.565C>T (NAA10) | ||
| ENST00000494813.5:n.441C>T (ARHGAP4) | ||
| NM_001256119.1:c.341+205C>T (NAA10) | NP_001243048.1:n.341+205C>T | |
| NM_001256120.1:c.328C>T (NAA10) | NP_001243049.1:p.Arg110Trp | |
| NM_003491.3:c.346C>T (NAA10) | NP_003482.1:p.Arg116Trp | |
| NM_003491.4:c.346C>T (NAA10) MANE Select | NP_003482.1:p.Arg116Trp | |
| NM_001256119.2:c.341+205C>T (NAA10) | NP_001243048.1:n.341+205C>T | |
| NM_001256120.2:c.328C>T (NAA10) | NP_001243049.1:p.Arg110Trp |