Canonical Allele Identifier: CA229500
Gene: PAH HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
MyVariant.info:
GRCh38 chr12:g.102894837C>A
GRCh37 chr12:g.103288615C>A
Revel Score:
ENST00000553106 (MANE Select) 0.819
ENST00000307000 0.819
ENST00000551337 0.819
ENST00000546844 0.819
gnomAD v2:
12:103288615 C / A
gnomAD v3:
12:102894837 C / A
gnomAD v4:
chr12-102894837-C-A
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar Allele:
108375
ClinVar RCV:
RCV000088883
RCV000761308
ClinVar Variation:
102639
dbSNP:
62514902
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894837C>A , CM000674.2:g.102894837C>A GRCh38
NC_000012.11:g.103288615C>A , CM000674.1:g.103288615C>A GRCh37
NC_000012.10:g.101812745C>A NCBI36
NG_008690.1:g.27766G>T
NG_008690.2:g.68574G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.250G>T MANE Select ENSP00000448059.1:p.Asp84Tyr
ENST00000307000.7:c.235G>T ENSP00000303500.2:p.Asp79Tyr
ENST00000546844.1:c.250G>T ENSP00000446658.1:p.Asp84Tyr
ENST00000548677.2:n.337G>T
ENST00000548928.1:n.172G>T
ENST00000549111.5:n.346G>T
ENST00000550978.6:c.234G>T
ENST00000551337.5:c.250G>T ENSP00000447620.1:p.Asp84Tyr
ENST00000551988.5:n.339G>T
ENST00000553106.5:c.250G>T ENSP00000448059.1:p.Asp84Tyr
NM_000277.1:c.250G>T NP_000268.1:p.Asp84Tyr
XM_011538422.1:c.250G>T XP_011536724.1:p.Asp84Tyr
NM_000277.2:c.250G>T NP_000268.1:p.Asp84Tyr
NM_001354304.1:c.250G>T NP_001341233.1:p.Asp84Tyr
XM_017019370.2:c.250G>T XP_016874859.1:p.Asp84Tyr
NM_000277.3:c.250G>T MANE Select NP_000268.1:p.Asp84Tyr
NM_001354304.2:c.250G>T NP_001341233.1:p.Asp84Tyr
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