ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.578
ENST00000307000
0.578
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851709C>A , CM000674.2:g.102851709C>A | GRCh38 |
| NC_000012.11:g.103245487C>A , CM000674.1:g.103245487C>A | GRCh37 |
| NC_000012.10:g.101769617C>A | NCBI36 |
| NG_008690.1:g.70894G>T | |
| NG_008690.2:g.111702G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.890G>T MANE Select | ENSP00000448059.1:p.Arg297Leu | |
| ENST00000307000.7:c.875G>T | ENSP00000303500.2:p.Arg292Leu | |
| ENST00000549247.6:n.649G>T | ||
| ENST00000551114.2:n.552G>T | ||
| ENST00000553106.5:c.890G>T | ENSP00000448059.1:p.Arg297Leu | |
| ENST00000635477.1:c.51G>T | ||
| NM_000277.1:c.890G>T | NP_000268.1:p.Arg297Leu | |
| XM_011538422.1:c.890G>T | XP_011536724.1:p.Arg297Leu | |
| NM_000277.2:c.890G>T | NP_000268.1:p.Arg297Leu | |
| NM_001354304.1:c.890G>T | NP_001341233.1:p.Arg297Leu | |
| NM_000277.3:c.890G>T MANE Select | NP_000268.1:p.Arg297Leu | |
| NM_001354304.2:c.890G>T | NP_001341233.1:p.Arg297Leu |