Canonical Allele Identifier: CA229401
Gene: PAH HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
MyVariant.info:
GRCh38 chr12:g.102912838G>A
GRCh37 chr12:g.103306616G>A
Revel Score:
ENST00000553106 (MANE Select) 0.908
ENST00000307000 0.908
ENST00000551337 0.908
ENST00000546844 0.908
ClinVar Allele:
108305
ClinVar RCV:
RCV000088803
RCV000697659
ClinVar Variation:
102569
dbSNP:
62642928
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912838G>A , CM000674.2:g.102912838G>A GRCh38
NC_000012.11:g.103306616G>A , CM000674.1:g.103306616G>A GRCh37
NC_000012.10:g.101830746G>A NCBI36
NG_008690.1:g.9765C>T
NG_008690.2:g.50573C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.121C>T MANE Select ENSP00000448059.1:p.Leu41Phe
ENST00000307000.7:c.106C>T ENSP00000303500.2:p.Leu36Phe
ENST00000546844.1:c.121C>T ENSP00000446658.1:p.Leu41Phe
ENST00000548677.2:n.208C>T
ENST00000548928.1:n.43C>T
ENST00000549111.5:n.217C>T
ENST00000550978.6:c.105C>T
ENST00000551337.5:c.121C>T ENSP00000447620.1:p.Leu41Phe
ENST00000551988.5:n.210C>T
ENST00000553106.5:c.121C>T ENSP00000448059.1:p.Leu41Phe
ENST00000635500.1:n.89C>T
NM_000277.1:c.121C>T NP_000268.1:p.Leu41Phe
XM_011538422.1:c.121C>T XP_011536724.1:p.Leu41Phe
NM_000277.2:c.121C>T NP_000268.1:p.Leu41Phe
NM_001354304.1:c.121C>T NP_001341233.1:p.Leu41Phe
XM_017019370.2:c.121C>T XP_016874859.1:p.Leu41Phe
NM_000277.3:c.121C>T MANE Select NP_000268.1:p.Leu41Phe
NM_001354304.2:c.121C>T NP_001341233.1:p.Leu41Phe
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