ClinGen Evidence Repository:
Classification
Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.973
ENST00000307000
0.973
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013364 (MID)
Genomes Max Group AF
0.00009054 (NFE)
Exomes Max Group AF
0.00010461 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843676T>C , CM000674.2:g.102843676T>C | GRCh38 |
| NC_000012.11:g.103237454T>C , CM000674.1:g.103237454T>C | GRCh37 |
| NC_000012.10:g.101761584T>C | NCBI36 |
| NG_008690.1:g.78927A>G | |
| NG_008690.2:g.119735A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1169A>G MANE Select | ENSP00000448059.1:p.Glu390Gly | |
| ENST00000307000.7:c.1154A>G | ENSP00000303500.2:p.Glu385Gly | |
| ENST00000549247.6:n.928A>G | ||
| ENST00000551114.2:n.831A>G | ||
| ENST00000553106.5:c.1169A>G | ENSP00000448059.1:p.Glu390Gly | |
| ENST00000635477.1:c.273A>G | ||
| ENST00000635528.1:n.684A>G | ||
| NM_000277.1:c.1169A>G | NP_000268.1:p.Glu390Gly | |
| XM_011538422.1:c.1112A>G | XP_011536724.1:p.Glu371Gly | |
| NM_000277.2:c.1169A>G | NP_000268.1:p.Glu390Gly | |
| NM_001354304.1:c.1169A>G | NP_001341233.1:p.Glu390Gly | |
| NM_000277.3:c.1169A>G MANE Select | NP_000268.1:p.Glu390Gly | |
| NM_001354304.2:c.1169A>G | NP_001341233.1:p.Glu390Gly |