ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.977
ENST00000307000
0.977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844368C>T , CM000674.2:g.102844368C>T | GRCh38 |
| NC_000012.11:g.103238146C>T , CM000674.1:g.103238146C>T | GRCh37 |
| NC_000012.10:g.101762276C>T | NCBI36 |
| NG_008690.1:g.78235G>A | |
| NG_008690.2:g.119043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1033G>A MANE Select | ENSP00000448059.1:p.Ala345Thr | |
| ENST00000307000.7:c.1018G>A | ENSP00000303500.2:p.Ala340Thr | |
| ENST00000549247.6:n.792G>A | ||
| ENST00000551114.2:n.695G>A | ||
| ENST00000553106.5:c.1033G>A | ENSP00000448059.1:p.Ala345Thr | |
| ENST00000635477.1:c.137G>A | ||
| ENST00000635528.1:n.548G>A | ||
| NM_000277.1:c.1033G>A | NP_000268.1:p.Ala345Thr | |
| XM_011538422.1:c.976G>A | XP_011536724.1:p.Ala326Thr | |
| NM_000277.2:c.1033G>A | NP_000268.1:p.Ala345Thr | |
| NM_001354304.1:c.1033G>A | NP_001341233.1:p.Ala345Thr | |
| NM_000277.3:c.1033G>A MANE Select | NP_000268.1:p.Ala345Thr | |
| NM_001354304.2:c.1033G>A | NP_001341233.1:p.Ala345Thr |