Canonical Allele Identifier: CA229836
Gene: PAH HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
COSMIC:
COSM934119
MyVariant.info:
GRCh38 chr12:g.102851710G>A
GRCh37 chr12:g.103245488G>A
Revel Score:
ENST00000553106 (MANE Select) 0.824
ENST00000307000 0.824
gnomAD v2:
12:103245488 G / A
gnomAD v3:
12:102851710 G / A
gnomAD v4:
chr12-102851710-G-A
Joint Max Group AF 0.00002105 (SAS)
Exomes Max Group AF 0.00002194 (SAS)
ClinVar Allele:
108621
ClinVar RCV:
RCV000089146
RCV000993622
ClinVar Variation:
102885
dbSNP:
62642945
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851710G>A , CM000674.2:g.102851710G>A GRCh38
NC_000012.11:g.103245488G>A , CM000674.1:g.103245488G>A GRCh37
NC_000012.10:g.101769618G>A NCBI36
NG_008690.1:g.70893C>T
NG_008690.2:g.111701C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.889C>T MANE Select ENSP00000448059.1:p.Arg297Cys
ENST00000307000.7:c.874C>T ENSP00000303500.2:p.Arg292Cys
ENST00000549247.6:n.648C>T
ENST00000551114.2:n.551C>T
ENST00000553106.5:c.889C>T ENSP00000448059.1:p.Arg297Cys
ENST00000635477.1:c.50C>T
NM_000277.1:c.889C>T NP_000268.1:p.Arg297Cys
XM_011538422.1:c.889C>T XP_011536724.1:p.Arg297Cys
NM_000277.2:c.889C>T NP_000268.1:p.Arg297Cys
NM_001354304.1:c.889C>T NP_001341233.1:p.Arg297Cys
NM_000277.3:c.889C>T MANE Select NP_000268.1:p.Arg297Cys
NM_001354304.2:c.889C>T NP_001341233.1:p.Arg297Cys
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