ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.874
ENST00000307000
0.874
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844424C>G , CM000674.2:g.102844424C>G | GRCh38 |
| NC_000012.11:g.103238202C>G , CM000674.1:g.103238202C>G | GRCh37 |
| NC_000012.10:g.101762332C>G | NCBI36 |
| NG_008690.1:g.78179G>C | |
| NG_008690.2:g.118987G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.977G>C MANE Select | ENSP00000448059.1:p.Trp326Ser | |
| ENST00000307000.7:c.962G>C | ENSP00000303500.2:p.Trp321Ser | |
| ENST00000549247.6:n.736G>C | ||
| ENST00000551114.2:n.639G>C | ||
| ENST00000553106.5:c.977G>C | ENSP00000448059.1:p.Trp326Ser | |
| ENST00000635477.1:c.81G>C | ||
| ENST00000635528.1:n.492G>C | ||
| NM_000277.1:c.977G>C | NP_000268.1:p.Trp326Ser | |
| XM_011538422.1:c.920G>C | XP_011536724.1:p.Trp307Ser | |
| NM_000277.2:c.977G>C | NP_000268.1:p.Trp326Ser | |
| NM_001354304.1:c.977G>C | NP_001341233.1:p.Trp326Ser | |
| NM_000277.3:c.977G>C MANE Select | NP_000268.1:p.Trp326Ser | |
| NM_001354304.2:c.977G>C | NP_001341233.1:p.Trp326Ser |