Revel Score:
ENST00000541745
0.909
ENST00000293404 (MANE Select)
0.909
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44007611T>C , CM000679.2:g.44007611T>C | GRCh38 |
| NC_000017.10:g.42084979T>C , CM000679.1:g.42084979T>C | GRCh37 |
| NC_000017.9:g.39440505T>C | NCBI36 |
| NG_008106.1:g.7948T>C | |
| NG_023338.1:g.1859A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.1289T>C (NAGS) MANE Select | ENSP00000293404.2:p.Leu430Pro | |
| ENST00000293404.7:c.1289T>C (NAGS) | ENSP00000293404.2:p.Leu430Pro | |
| ENST00000589767.1:c.1220T>C (NAGS) | ENSP00000465408.1:p.Leu407Pro | |
| ENST00000592915.1:n.1177T>C (NAGS) | ||
| NM_153006.2:c.1289T>C (NAGS) | NP_694551.1:p.Leu430Pro | |
| XM_011524438.1:c.1268+117T>C (NAGS) | XP_011522740.1:n.1268+117T>C | |
| XM_011524439.1:c.791T>C (NAGS) | XP_011522741.1:p.Leu264Pro | |
| XM_011525035.1:c.-463+15961A>G (PYY) | XP_011523337.1:n.-463+15961A>G | |
| XM_011524439.2:c.791T>C (NAGS) | XP_011522741.1:p.Leu264Pro | |
| NM_153006.3:c.1289T>C (NAGS) MANE Select | NP_694551.1:p.Leu430Pro |