Revel Score:
ENST00000281543 (MANE Select)
0.699
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.44695724G>T , CM000666.2:g.44695724G>T | GRCh38 |
| NC_000004.11:g.44697741G>T , CM000666.1:g.44697741G>T | GRCh37 |
| NC_000004.10:g.44392498G>T | NCBI36 |
| NG_051569.1:g.22330G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281543.6:c.1825G>T (GUF1) MANE Select | ENSP00000281543.5:p.Ala609Ser | |
| ENST00000281543.5:c.1825G>T (GUF1) | ENSP00000281543.5:p.Ala609Ser | |
| ENST00000506793.5:n.1707G>T (GUF1) | ||
| ENST00000511493.1:n.105+1211G>T (GUF1) | ||
| ENST00000608855.1:c.127+12028C>A (GNPDA2) | ENSP00000477137.1:n.127+12028C>A | |
| ENST00000609092.5:c.246+12028C>A (GNPDA2) | ||
| NM_021927.2:c.1825G>T (GUF1) | NP_068746.2:p.Ala609Ser | |
| XM_005248122.2:c.853G>T (GUF1) | XP_005248179.1:p.Ala285Ser | |
| XM_011513625.1:c.769+12028C>A (GNPDA2) | XP_011511927.1:n.769+12028C>A | |
| XM_011513626.1:c.559+12028C>A (GNPDA2) | XP_011511928.1:n.559+12028C>A | |
| XM_011513732.1:c.1715+1211G>T (GUF1) | XP_011512034.1:n.1715+1211G>T | |
| XM_011513733.1:c.1675G>T (GUF1) | XP_011512035.1:p.Ala559Ser | |
| NM_001345867.1:c.853G>T (GUF1) | NP_001332796.1:p.Ala285Ser | |
| NM_001345868.1:c.1715+1211G>T (GUF1) | NP_001332797.1:n.1715+1211G>T | |
| NM_001345869.1:c.853G>T (GUF1) | NP_001332798.1:p.Ala285Ser | |
| XM_024454178.1:c.1675G>T (GUF1) | XP_024309946.1:p.Ala559Ser | |
| NM_021927.3:c.1825G>T (GUF1) MANE Select | NP_068746.2:p.Ala609Ser | |
| NM_001345867.2:c.853G>T (GUF1) | NP_001332796.1:p.Ala285Ser | |
| NM_001345868.2:c.1715+1211G>T (GUF1) | NP_001332797.1:n.1715+1211G>T | |
| NM_001345869.2:c.853G>T (GUF1) | NP_001332798.1:p.Ala285Ser |