Revel Score:
ENST00000464845 (MANE Select)
0.821
ENST00000370015
0.821
ENST00000393712
0.821
ENST00000432089
0.821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153932075A>T , CM000685.2:g.153932075A>T | GRCh38 |
| NC_000023.10:g.153197528A>T , CM000685.1:g.153197528A>T | GRCh37 |
| NC_000023.9:g.152850722A>T | NCBI36 |
| NG_031987.1:g.8080T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477750.6:n.758T>A (NAA10) | ||
| ENST00000700299.1:n.500T>A (NAA10) | ||
| ENST00000464845.6:c.382T>A (NAA10) MANE Select | ENSP00000417763.1:p.Phe128Ile | |
| ENST00000370009.5:c.341+241T>A (NAA10) | ENSP00000359026.1:n.341+241T>A | |
| ENST00000370011.7:c.323+241T>A (NAA10) | ENSP00000359028.3:n.323+241T>A | |
| ENST00000370015.8:c.382T>A (NAA10) | ENSP00000359032.4:p.Phe128Ile | |
| ENST00000393710.7:n.493T>A (NAA10) | ||
| ENST00000393712.7:c.382T>A (NAA10) | ENSP00000377315.3:p.Phe128Ile | |
| ENST00000432089.1:c.364T>A (NAA10) | ENSP00000413668.1:p.Phe122Ile | |
| ENST00000460996.5:n.671T>A (NAA10) | ||
| ENST00000464845.5:c.382T>A (NAA10) | ENSP00000417763.1:p.Phe128Ile | |
| ENST00000466877.5:n.693T>A (NAA10) | ||
| ENST00000467451.1:n.184T>A (NAA10) | ||
| ENST00000477750.5:n.758T>A (NAA10) | ||
| ENST00000477882.1:n.801T>A (NAA10) | ||
| ENST00000484950.5:n.601T>A (NAA10) | ||
| ENST00000494813.5:n.477T>A (ARHGAP4) | ||
| NM_001256119.1:c.341+241T>A (NAA10) | NP_001243048.1:n.341+241T>A | |
| NM_001256120.1:c.364T>A (NAA10) | NP_001243049.1:p.Phe122Ile | |
| NM_003491.3:c.382T>A (NAA10) | NP_003482.1:p.Phe128Ile | |
| NM_003491.4:c.382T>A (NAA10) MANE Select | NP_003482.1:p.Phe128Ile | |
| NM_001256119.2:c.341+241T>A (NAA10) | NP_001243048.1:n.341+241T>A | |
| NM_001256120.2:c.364T>A (NAA10) | NP_001243049.1:p.Phe122Ile |