Canonical Allele Identifier: CA229497
Gene: PAH HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
MyVariant.info:
GRCh38 chr12:g.102894846T>G
GRCh37 chr12:g.103288624T>G
Revel Score:
ENST00000553106 (MANE Select) 0.740
ENST00000307000 0.740
ENST00000551337 0.740
ENST00000546844 0.740
gnomAD v3:
12:102894846 T / G
gnomAD v4:
chr12-102894846-T-G
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.0000031 (NFE)
ClinVar RCV:
RCV000088881
RCV001192889
ClinVar Variation:
102637
dbSNP:
62509017
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894846T>G , CM000674.2:g.102894846T>G GRCh38
NC_000012.11:g.103288624T>G , CM000674.1:g.103288624T>G GRCh37
NC_000012.10:g.101812754T>G NCBI36
NG_008690.1:g.27757A>C
NG_008690.2:g.68565A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.241A>C MANE Select ENSP00000448059.1:p.Thr81Pro
ENST00000307000.7:c.226A>C ENSP00000303500.2:p.Thr76Pro
ENST00000546844.1:c.241A>C ENSP00000446658.1:p.Thr81Pro
ENST00000548677.2:n.328A>C
ENST00000548928.1:n.163A>C
ENST00000549111.5:n.337A>C
ENST00000550978.6:c.225A>C
ENST00000551337.5:c.241A>C ENSP00000447620.1:p.Thr81Pro
ENST00000551988.5:n.330A>C
ENST00000553106.5:c.241A>C ENSP00000448059.1:p.Thr81Pro
NM_000277.1:c.241A>C NP_000268.1:p.Thr81Pro
XM_011538422.1:c.241A>C XP_011536724.1:p.Thr81Pro
NM_000277.2:c.241A>C NP_000268.1:p.Thr81Pro
NM_001354304.1:c.241A>C NP_001341233.1:p.Thr81Pro
XM_017019370.2:c.241A>C XP_016874859.1:p.Thr81Pro
NM_000277.3:c.241A>C MANE Select NP_000268.1:p.Thr81Pro
NM_001354304.2:c.241A>C NP_001341233.1:p.Thr81Pro
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