ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
ethylmalonic encephalopathy
Revel Score:
ENST00000292147 (MANE Select)
0.259
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43506854G>A , CM000681.2:g.43506854G>A | GRCh38 |
| NC_000019.9:g.44011006G>A , CM000681.1:g.44011006G>A | GRCh37 |
| NC_000019.8:g.48702846G>A | NCBI36 |
| NG_008141.1:g.25391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.761C>T MANE Select | ENSP00000292147.1:p.Ala254Val | |
| ENST00000292147.6:c.761C>T | ENSP00000292147.1:p.Ala254Val | |
| ENST00000594342.5:c.*324C>T | ENSP00000469652.1:n.*324C>T | |
| NM_014297.3:c.761C>T | NP_055112.2:p.Ala254Val | |
| XM_005258687.2:c.680C>T | XP_005258744.1:p.Ala227Val | |
| XM_005258688.2:c.392C>T | XP_005258745.1:p.Ala131Val | |
| XM_011526685.1:c.482C>T | XP_011524987.1:p.Ala161Val | |
| NM_001320867.1:c.728C>T | NP_001307796.1:p.Ala243Val | |
| NM_001320868.1:c.392C>T | NP_001307797.1:p.Ala131Val | |
| NM_001320869.1:c.467C>T | NP_001307798.1:p.Ala156Val | |
| NM_014297.4:c.761C>T | NP_055112.2:p.Ala254Val | |
| XM_005258687.4:c.680C>T | XP_005258744.1:p.Ala227Val | |
| NM_014297.5:c.761C>T MANE Select | NP_055112.2:p.Ala254Val | |
| NM_001320867.2:c.728C>T | NP_001307796.1:p.Ala243Val | |
| NM_001320868.2:c.392C>T | NP_001307797.1:p.Ala131Val | |
| NM_001320869.2:c.467C>T | NP_001307798.1:p.Ala156Val |