Canonical Allele Identifier: CA229274
Gene: PAH HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
MyVariant.info:
GRCh38 chr12:g.102844379T>G
GRCh37 chr12:g.103238157T>G
Revel Score:
ENST00000553106 (MANE Select) 0.945
ENST00000307000 0.945
gnomAD v4:
chr12-102844379-T-G
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar Allele:
108207
ClinVar RCV:
RCV000088702
RCV001543650
ClinVar Variation:
102471
dbSNP:
62516153
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844379T>G , CM000674.2:g.102844379T>G GRCh38
NC_000012.11:g.103238157T>G , CM000674.1:g.103238157T>G GRCh37
NC_000012.10:g.101762287T>G NCBI36
NG_008690.1:g.78224A>C
NG_008690.2:g.119032A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1022A>C MANE Select ENSP00000448059.1:p.Lys341Thr
ENST00000307000.7:c.1007A>C ENSP00000303500.2:p.Lys336Thr
ENST00000549247.6:n.781A>C
ENST00000551114.2:n.684A>C
ENST00000553106.5:c.1022A>C ENSP00000448059.1:p.Lys341Thr
ENST00000635477.1:c.126A>C
ENST00000635528.1:n.537A>C
NM_000277.1:c.1022A>C NP_000268.1:p.Lys341Thr
XM_011538422.1:c.965A>C XP_011536724.1:p.Lys322Thr
NM_000277.2:c.1022A>C NP_000268.1:p.Lys341Thr
NM_001354304.1:c.1022A>C NP_001341233.1:p.Lys341Thr
NM_000277.3:c.1022A>C MANE Select NP_000268.1:p.Lys341Thr
NM_001354304.2:c.1022A>C NP_001341233.1:p.Lys341Thr
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