ClinGen Evidence Repository:
Classification
Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.892
ENST00000307000
0.892
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846942G>A , CM000674.2:g.102846942G>A | GRCh38 |
| NC_000012.11:g.103240720G>A , CM000674.1:g.103240720G>A | GRCh37 |
| NC_000012.10:g.101764850G>A | NCBI36 |
| NG_008690.1:g.75661C>T | |
| NG_008690.2:g.116469C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.922C>T MANE Select | ENSP00000448059.1:p.Leu308Phe | |
| ENST00000307000.7:c.907C>T | ENSP00000303500.2:p.Leu303Phe | |
| ENST00000549247.6:n.681C>T | ||
| ENST00000551114.2:n.584C>T | ||
| ENST00000553106.5:c.922C>T | ENSP00000448059.1:p.Leu308Phe | |
| ENST00000635477.1:c.74-2511C>T | ||
| ENST00000635528.1:n.437C>T | ||
| NM_000277.1:c.922C>T | NP_000268.1:p.Leu308Phe | |
| XM_011538422.1:c.913-2511C>T | XP_011536724.1:n.913-2511C>T | |
| NM_000277.2:c.922C>T | NP_000268.1:p.Leu308Phe | |
| NM_001354304.1:c.922C>T | NP_001341233.1:p.Leu308Phe | |
| NM_000277.3:c.922C>T MANE Select | NP_000268.1:p.Leu308Phe | |
| NM_001354304.2:c.922C>T | NP_001341233.1:p.Leu308Phe |