ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.938
ENST00000307000
0.938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855177T>A , CM000674.2:g.102855177T>A | GRCh38 |
| NC_000012.11:g.103248955T>A , CM000674.1:g.103248955T>A | GRCh37 |
| NC_000012.10:g.101773085T>A | NCBI36 |
| NG_008690.1:g.67426A>T | |
| NG_008690.2:g.108234A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.665A>T MANE Select | ENSP00000448059.1:p.Asp222Val | |
| ENST00000307000.7:c.650A>T | ENSP00000303500.2:p.Asp217Val | |
| ENST00000549111.5:n.761A>T | ||
| ENST00000553106.5:c.665A>T | ENSP00000448059.1:p.Asp222Val | |
| NM_000277.1:c.665A>T | NP_000268.1:p.Asp222Val | |
| XM_011538422.1:c.665A>T | XP_011536724.1:p.Asp222Val | |
| NM_000277.2:c.665A>T | NP_000268.1:p.Asp222Val | |
| NM_001354304.1:c.665A>T | NP_001341233.1:p.Asp222Val | |
| XM_017019370.2:c.665A>T | XP_016874859.1:p.Asp222Val | |
| NM_000277.3:c.665A>T MANE Select | NP_000268.1:p.Asp222Val | |
| NM_001354304.2:c.665A>T | NP_001341233.1:p.Asp222Val |