ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.664
ENST00000307000
0.664
ENST00000551337
0.664
ENST00000546844
0.664
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894897G>T , CM000674.2:g.102894897G>T | GRCh38 |
| NC_000012.11:g.103288675G>T , CM000674.1:g.103288675G>T | GRCh37 |
| NC_000012.10:g.101812805G>T | NCBI36 |
| NG_008690.1:g.27706C>A | |
| NG_008690.2:g.68514C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.190C>A MANE Select | ENSP00000448059.1:p.His64Asn | |
| ENST00000307000.7:c.175C>A | ENSP00000303500.2:p.His59Asn | |
| ENST00000546844.1:c.190C>A | ENSP00000446658.1:p.His64Asn | |
| ENST00000548677.2:n.277C>A | ||
| ENST00000548928.1:n.112C>A | ||
| ENST00000549111.5:n.286C>A | ||
| ENST00000550978.6:c.174C>A | ||
| ENST00000551337.5:c.190C>A | ENSP00000447620.1:p.His64Asn | |
| ENST00000551988.5:n.279C>A | ||
| ENST00000553106.5:c.190C>A | ENSP00000448059.1:p.His64Asn | |
| ENST00000635500.1:n.158C>A | ||
| NM_000277.1:c.190C>A | NP_000268.1:p.His64Asn | |
| XM_011538422.1:c.190C>A | XP_011536724.1:p.His64Asn | |
| NM_000277.2:c.190C>A | NP_000268.1:p.His64Asn | |
| NM_001354304.1:c.190C>A | NP_001341233.1:p.His64Asn | |
| XM_017019370.2:c.190C>A | XP_016874859.1:p.His64Asn | |
| NM_000277.3:c.190C>A MANE Select | NP_000268.1:p.His64Asn | |
| NM_001354304.2:c.190C>A | NP_001341233.1:p.His64Asn |