Canonical Allele Identifier: CA229678
Gene: PAH HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
gnomAD v2:
12:103248954 ATC / A
gnomAD v3:
12:102855176 ATC / A
gnomAD v4:
chr12-102855176-ATC-A
Joint Max Group AF 0.00002907 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002913 (NFE)
ClinVar RCV:
RCV000119778
RCV000169088
ClinVar Variation:
133249
dbSNP:
62514936
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855178_102855179del , CM000674.2:g.102855178_102855179del GRCh38
NC_000012.11:g.103248956_103248957del , CM000674.1:g.103248956_103248957del GRCh37
NC_000012.10:g.101773086_101773087del NCBI36
NG_008690.1:g.67425_67426del
NG_008690.2:g.108233_108234del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.664_665del MANE Select ENSP00000448059.1:p.Asp222Ter
ENST00000307000.7:c.649_650del ENSP00000303500.2:p.Asp217Ter
ENST00000549111.5:n.760_761del
ENST00000553106.5:c.664_665del ENSP00000448059.1:p.Asp222Ter
NM_000277.1:c.664_665del NP_000268.1:p.Asp222Ter
XM_011538422.1:c.664_665del XP_011536724.1:p.Asp222Ter
NM_000277.2:c.664_665del NP_000268.1:p.Asp222Ter
NM_001354304.1:c.664_665del NP_001341233.1:p.Asp222Ter
XM_017019370.2:c.664_665del XP_016874859.1:p.Asp222Ter
NM_000277.3:c.664_665del MANE Select NP_000268.1:p.Asp222Ter
NM_001354304.2:c.664_665del NP_001341233.1:p.Asp222Ter
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