ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.937
ENST00000307000
0.937
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866645A>T , CM000674.2:g.102866645A>T | GRCh38 |
| NC_000012.11:g.103260423A>T , CM000674.1:g.103260423A>T | GRCh37 |
| NC_000012.10:g.101784553A>T | NCBI36 |
| NG_008690.1:g.55958T>A | |
| NG_008690.2:g.96766T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.460T>A MANE Select | ENSP00000448059.1:p.Tyr154Asn | |
| ENST00000307000.7:c.445T>A | ENSP00000303500.2:p.Tyr149Asn | |
| ENST00000549111.5:n.556T>A | ||
| ENST00000551988.5:n.530+10817T>A | ||
| ENST00000553106.5:c.460T>A | ENSP00000448059.1:p.Tyr154Asn | |
| NM_000277.1:c.460T>A | NP_000268.1:p.Tyr154Asn | |
| XM_011538422.1:c.460T>A | XP_011536724.1:p.Tyr154Asn | |
| NM_000277.2:c.460T>A | NP_000268.1:p.Tyr154Asn | |
| NM_001354304.1:c.460T>A | NP_001341233.1:p.Tyr154Asn | |
| XM_017019370.2:c.460T>A | XP_016874859.1:p.Tyr154Asn | |
| NM_000277.3:c.460T>A MANE Select | NP_000268.1:p.Tyr154Asn | |
| NM_001354304.2:c.460T>A | NP_001341233.1:p.Tyr154Asn |