ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.980
ENST00000307000
0.980
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866653T>C , CM000674.2:g.102866653T>C | GRCh38 |
| NC_000012.11:g.103260431T>C , CM000674.1:g.103260431T>C | GRCh37 |
| NC_000012.10:g.101784561T>C | NCBI36 |
| NG_008690.1:g.55950A>G | |
| NG_008690.2:g.96758A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.452A>G MANE Select | ENSP00000448059.1:p.Asp151Gly | |
| ENST00000307000.7:c.437A>G | ENSP00000303500.2:p.Asp146Gly | |
| ENST00000549111.5:n.548A>G | ||
| ENST00000551988.5:n.530+10809A>G | ||
| ENST00000553106.5:c.452A>G | ENSP00000448059.1:p.Asp151Gly | |
| NM_000277.1:c.452A>G | NP_000268.1:p.Asp151Gly | |
| XM_011538422.1:c.452A>G | XP_011536724.1:p.Asp151Gly | |
| NM_000277.2:c.452A>G | NP_000268.1:p.Asp151Gly | |
| NM_001354304.1:c.452A>G | NP_001341233.1:p.Asp151Gly | |
| XM_017019370.2:c.452A>G | XP_016874859.1:p.Asp151Gly | |
| NM_000277.3:c.452A>G MANE Select | NP_000268.1:p.Asp151Gly | |
| NM_001354304.2:c.452A>G | NP_001341233.1:p.Asp151Gly |