Canonical Allele Identifier: CA114364
Gene: PAH HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
COSMIC:
COSM2063913
MyVariant.info:
GRCh38 chr12:g.102840472C>T
GRCh37 chr12:g.103234250C>T
Revel Score:
ENST00000553106 (MANE Select) 0.567
ENST00000307000 0.567
gnomAD v2:
12:103234250 C / T
gnomAD v3:
12:102840472 C / T
gnomAD v4:
chr12-102840472-C-T
Joint Max Group AF 0.00023409 (AMR)
Genomes Max Group AF 0.00012875 (AMR)
Exomes Max Group AF 0.00022388 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840472C>T , CM000674.2:g.102840472C>T GRCh38
NC_000012.11:g.103234250C>T , CM000674.1:g.103234250C>T GRCh37
NC_000012.10:g.101758380C>T NCBI36
NG_008690.1:g.82131G>A
NG_008690.2:g.122939G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1243G>A MANE Select ENSP00000448059.1:p.Asp415Asn
ENST00000307000.7:c.1228G>A ENSP00000303500.2:p.Asp410Asn
ENST00000551114.2:n.905G>A
ENST00000553106.5:c.1243G>A ENSP00000448059.1:p.Asp415Asn
ENST00000635477.1:c.347G>A
ENST00000635528.1:n.758G>A
NM_000277.1:c.1243G>A NP_000268.1:p.Asp415Asn
XM_011538422.1:c.1186G>A XP_011536724.1:p.Asp396Asn
NM_000277.2:c.1243G>A NP_000268.1:p.Asp415Asn
NM_001354304.1:c.1243G>A NP_001341233.1:p.Asp415Asn
NM_000277.3:c.1243G>A MANE Select NP_000268.1:p.Asp415Asn
NM_001354304.2:c.1243G>A NP_001341233.1:p.Asp415Asn
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