ClinGen Classification:
Classification
Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011262 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00011541 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852930G>A , CM000674.2:g.102852930G>A | GRCh38 |
| NC_000012.11:g.103246708G>A , CM000674.1:g.103246708G>A | GRCh37 |
| NC_000012.10:g.101770838G>A | NCBI36 |
| NG_008690.1:g.69673C>T | |
| NG_008690.2:g.110481C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.727C>T MANE Select | ENSP00000448059.1:p.Arg243Ter | |
| ENST00000307000.7:c.712C>T | ENSP00000303500.2:p.Arg238Ter | |
| ENST00000549247.6:n.486C>T | ||
| ENST00000553106.5:c.727C>T | ENSP00000448059.1:p.Arg243Ter | |
| NM_000277.1:c.727C>T | NP_000268.1:p.Arg243Ter | |
| XM_011538422.1:c.727C>T | XP_011536724.1:p.Arg243Ter | |
| NM_000277.2:c.727C>T | NP_000268.1:p.Arg243Ter | |
| NM_001354304.1:c.727C>T | NP_001341233.1:p.Arg243Ter | |
| NM_000277.3:c.727C>T MANE Select | NP_000268.1:p.Arg243Ter | |
| NM_001354304.2:c.727C>T | NP_001341233.1:p.Arg243Ter |