ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.958
ENST00000307000
0.958
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844394T>C , CM000674.2:g.102844394T>C | GRCh38 |
| NC_000012.11:g.103238172T>C , CM000674.1:g.103238172T>C | GRCh37 |
| NC_000012.10:g.101762302T>C | NCBI36 |
| NG_008690.1:g.78209A>G | |
| NG_008690.2:g.119017A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1007A>G MANE Select | ENSP00000448059.1:p.Gln336Arg | |
| ENST00000307000.7:c.992A>G | ENSP00000303500.2:p.Gln331Arg | |
| ENST00000549247.6:n.766A>G | ||
| ENST00000551114.2:n.669A>G | ||
| ENST00000553106.5:c.1007A>G | ENSP00000448059.1:p.Gln336Arg | |
| ENST00000635477.1:c.111A>G | ||
| ENST00000635528.1:n.522A>G | ||
| NM_000277.1:c.1007A>G | NP_000268.1:p.Gln336Arg | |
| XM_011538422.1:c.950A>G | XP_011536724.1:p.Gln317Arg | |
| NM_000277.2:c.1007A>G | NP_000268.1:p.Gln336Arg | |
| NM_001354304.1:c.1007A>G | NP_001341233.1:p.Gln336Arg | |
| NM_000277.3:c.1007A>G MANE Select | NP_000268.1:p.Gln336Arg | |
| NM_001354304.2:c.1007A>G | NP_001341233.1:p.Gln336Arg |