Canonical Allele Identifier: CA229553
Gene: PAH HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
MyVariant.info:
GRCh38 chr12:g.102866654C>G
GRCh37 chr12:g.103260432C>G
Revel Score:
ENST00000553106 (MANE Select) 0.977
ENST00000307000 0.977
ClinVar Allele:
108418
ClinVar RCV:
RCV000088930
ClinVar Variation:
102682
dbSNP:
199475597
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866654C>G , CM000674.2:g.102866654C>G GRCh38
NC_000012.11:g.103260432C>G , CM000674.1:g.103260432C>G GRCh37
NC_000012.10:g.101784562C>G NCBI36
NG_008690.1:g.55949G>C
NG_008690.2:g.96757G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.451G>C MANE Select ENSP00000448059.1:p.Asp151His
ENST00000307000.7:c.436G>C ENSP00000303500.2:p.Asp146His
ENST00000549111.5:n.547G>C
ENST00000551988.5:n.530+10808G>C
ENST00000553106.5:c.451G>C ENSP00000448059.1:p.Asp151His
NM_000277.1:c.451G>C NP_000268.1:p.Asp151His
XM_011538422.1:c.451G>C XP_011536724.1:p.Asp151His
NM_000277.2:c.451G>C NP_000268.1:p.Asp151His
NM_001354304.1:c.451G>C NP_001341233.1:p.Asp151His
XM_017019370.2:c.451G>C XP_016874859.1:p.Asp151His
NM_000277.3:c.451G>C MANE Select NP_000268.1:p.Asp151His
NM_001354304.2:c.451G>C NP_001341233.1:p.Asp151His
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