ClinGen Evidence Repository:
Classification
Benign
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42867791 (NFE)
Genomes Max Group AF
0.42214162 (NFE)
Exomes Max Group AF
0.42887111 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846852C>A , CM000674.2:g.102846852C>A | GRCh38 |
| NC_000012.11:g.103240630C>A , CM000674.1:g.103240630C>A | GRCh37 |
| NC_000012.10:g.101764760C>A | NCBI36 |
| NG_008690.1:g.75751G>T | |
| NG_008690.2:g.116559G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.969+43G>T MANE Select | ENSP00000448059.1:n.969+43G>T | |
| ENST00000307000.7:c.954+43G>T | ENSP00000303500.2:n.954+43G>T | |
| ENST00000549247.6:n.728+43G>T | ||
| ENST00000551114.2:n.631+43G>T | ||
| ENST00000553106.5:c.969+43G>T | ENSP00000448059.1:n.969+43G>T | |
| ENST00000635477.1:c.74-2421G>T | ||
| ENST00000635528.1:n.484+43G>T | ||
| NM_000277.1:c.969+43G>T | NP_000268.1:n.969+43G>T | |
| XM_011538422.1:c.913-2421G>T | XP_011536724.1:n.913-2421G>T | |
| NM_000277.2:c.969+43G>T | NP_000268.1:n.969+43G>T | |
| NM_001354304.1:c.969+43G>T | NP_001341233.1:n.969+43G>T | |
| NM_000277.3:c.969+43G>T MANE Select | NP_000268.1:n.969+43G>T | |
| NM_001354304.2:c.969+43G>T | NP_001341233.1:n.969+43G>T |