ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
phenylketonuria
VCEP
Phenylketonuria VCEP
Revel Score:
ENST00000553106 (MANE Select)
0.957
ENST00000307000
0.957
ENST00000551337
0.957
ENST00000546844
0.957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894893A>T , CM000674.2:g.102894893A>T | GRCh38 |
| NC_000012.11:g.103288671A>T , CM000674.1:g.103288671A>T | GRCh37 |
| NC_000012.10:g.101812801A>T | NCBI36 |
| NG_008690.1:g.27710T>A | |
| NG_008690.2:g.68518T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.194T>A MANE Select | ENSP00000448059.1:p.Ile65Asn | |
| ENST00000307000.7:c.179T>A | ENSP00000303500.2:p.Ile60Asn | |
| ENST00000546844.1:c.194T>A | ENSP00000446658.1:p.Ile65Asn | |
| ENST00000548677.2:n.281T>A | ||
| ENST00000548928.1:n.116T>A | ||
| ENST00000549111.5:n.290T>A | ||
| ENST00000550978.6:c.178T>A | ||
| ENST00000551337.5:c.194T>A | ENSP00000447620.1:p.Ile65Asn | |
| ENST00000551988.5:n.283T>A | ||
| ENST00000553106.5:c.194T>A | ENSP00000448059.1:p.Ile65Asn | |
| ENST00000635500.1:n.162T>A | ||
| NM_000277.1:c.194T>A | NP_000268.1:p.Ile65Asn | |
| XM_011538422.1:c.194T>A | XP_011536724.1:p.Ile65Asn | |
| NM_000277.2:c.194T>A | NP_000268.1:p.Ile65Asn | |
| NM_001354304.1:c.194T>A | NP_001341233.1:p.Ile65Asn | |
| XM_017019370.2:c.194T>A | XP_016874859.1:p.Ile65Asn | |
| NM_000277.3:c.194T>A MANE Select | NP_000268.1:p.Ile65Asn | |
| NM_001354304.2:c.194T>A | NP_001341233.1:p.Ile65Asn |