Canonical Allele Identifier: CA312807
Gene: PAH HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
MyVariant.info:
GRCh38 chr12:g.102917129A>G
GRCh37 chr12:g.103310907A>G
Revel Score:
ENST00000553106 (MANE Select) 0.642
ENST00000551337 0.642
ENST00000546844 0.642
gnomAD v2:
12:103310907 A / G
gnomAD v3:
12:102917129 A / G
gnomAD v4:
chr12-102917129-A-G
Joint Max Group AF 0.00009213 (AFR)
Genomes Max Group AF 0.00013043 (AFR)
Exomes Max Group AF 0.0000099 (AFR)
ClinVar Allele:
200225
ClinVar RCV:
RCV000186076
RCV000984289
ClinVar Variation:
203873
dbSNP:
62508575
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917129A>G , CM000674.2:g.102917129A>G GRCh38
NC_000012.11:g.103310907A>G , CM000674.1:g.103310907A>G GRCh37
NC_000012.10:g.101835037A>G NCBI36
NG_008690.1:g.5474T>C
NG_008690.2:g.46282T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.2T>C MANE Select ENSP00000448059.1:p.Met1Thr
ENST00000307000.7:c.-146T>C ENSP00000303500.2:n.-146T>C
ENST00000546844.1:c.2T>C ENSP00000446658.1:p.Met1Thr
ENST00000547319.1:n.313T>C
ENST00000549111.5:n.98T>C
ENST00000551337.5:c.2T>C ENSP00000447620.1:p.Met1Thr
ENST00000551988.5:n.91T>C
ENST00000553106.5:c.2T>C ENSP00000448059.1:p.Met1Thr
ENST00000635500.1:n.29-4231T>C
NM_000277.1:c.2T>C NP_000268.1:p.Met1Thr
XM_011538422.1:c.2T>C XP_011536724.1:p.Met1Thr
NM_000277.2:c.2T>C NP_000268.1:p.Met1Thr
NM_001354304.1:c.2T>C NP_001341233.1:p.Met1Thr
XM_017019370.2:c.2T>C XP_016874859.1:p.Met1Thr
NM_000277.3:c.2T>C MANE Select NP_000268.1:p.Met1Thr
NM_001354304.2:c.2T>C NP_001341233.1:p.Met1Thr
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