ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846895T>C , CM000674.2:g.102846895T>C | GRCh38 |
| NC_000012.11:g.103240673T>C , CM000674.1:g.103240673T>C | GRCh37 |
| NC_000012.10:g.101764803T>C | NCBI36 |
| NG_008690.1:g.75708A>G | |
| NG_008690.2:g.116516A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.969A>G MANE Select | ENSP00000448059.1:p.Thr323= | |
| ENST00000307000.7:c.954A>G | ENSP00000303500.2:p.Thr318= | |
| ENST00000549247.6:n.728A>G | ||
| ENST00000551114.2:n.631A>G | ||
| ENST00000553106.5:c.969A>G | ENSP00000448059.1:p.Thr323= | |
| ENST00000635477.1:c.74-2464A>G | ||
| ENST00000635528.1:n.484A>G | ||
| NM_000277.1:c.969A>G | NP_000268.1:p.Thr323= | |
| XM_011538422.1:c.913-2464A>G | XP_011536724.1:n.913-2464A>G | |
| NM_000277.2:c.969A>G | NP_000268.1:p.Thr323= | |
| NM_001354304.1:c.969A>G | NP_001341233.1:p.Thr323= | |
| NM_000277.3:c.969A>G MANE Select | NP_000268.1:p.Thr323= | |
| NM_001354304.2:c.969A>G | NP_001341233.1:p.Thr323= |