Canonical Allele Identifier: CA229561
Gene: PAH HGNC NCBI
ClinGen Classification:
Classification Likely Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
ClinVar RCV:
RCV000088935
RCV000675156
ClinVar Variation:
102687
dbSNP:
199475663
gnomAD v4:
chr12-102866641-C-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
MyVariant.info:
GRCh38 chr12:g.102866641C>G
GRCh37 chr12:g.103260419C>G
Revel Score:
ENST00000553106 (MANE Select) 0.967
ENST00000307000 0.967
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866641C>G , CM000674.2:g.102866641C>G GRCh38
NC_000012.11:g.103260419C>G , CM000674.1:g.103260419C>G GRCh37
NC_000012.10:g.101784549C>G NCBI36
NG_008690.1:g.55962G>C
NG_008690.2:g.96770G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.464G>C MANE Select ENSP00000448059.1:p.Arg155Pro
ENST00000307000.7:c.449G>C ENSP00000303500.2:p.Arg150Pro
ENST00000549111.5:n.560G>C
ENST00000551988.5:n.530+10821G>C
ENST00000553106.5:c.464G>C ENSP00000448059.1:p.Arg155Pro
NM_000277.1:c.464G>C NP_000268.1:p.Arg155Pro
XM_011538422.1:c.464G>C XP_011536724.1:p.Arg155Pro
NM_000277.2:c.464G>C NP_000268.1:p.Arg155Pro
NM_001354304.1:c.464G>C NP_001341233.1:p.Arg155Pro
XM_017019370.2:c.464G>C XP_016874859.1:p.Arg155Pro
NM_000277.3:c.464G>C MANE Select NP_000268.1:p.Arg155Pro
NM_001354304.2:c.464G>C NP_001341233.1:p.Arg155Pro
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