Canonical Allele Identifier: CA229459
Gene: PAH HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
MyVariant.info:
GRCh38 chr12:g.102912791C>A
GRCh37 chr12:g.103306569C>A
Revel Score:
ENST00000553106 (MANE Select) 0.626
ENST00000307000 0.626
ENST00000551337 0.626
ENST00000546844 0.626
ClinVar Allele:
108346
ClinVar RCV:
RCV000088852
RCV001543635
ClinVar Variation:
102610
dbSNP:
199475567
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912791C>A , CM000674.2:g.102912791C>A GRCh38
NC_000012.11:g.103306569C>A , CM000674.1:g.103306569C>A GRCh37
NC_000012.10:g.101830699C>A NCBI36
NG_008690.1:g.9812G>T
NG_008690.2:g.50620G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.168G>T MANE Select ENSP00000448059.1:p.Glu56Asp
ENST00000307000.7:c.153G>T ENSP00000303500.2:p.Glu51Asp
ENST00000546844.1:c.168G>T ENSP00000446658.1:p.Glu56Asp
ENST00000548677.2:n.255G>T
ENST00000548928.1:n.90G>T
ENST00000549111.5:n.264G>T
ENST00000550978.6:c.152G>T
ENST00000551337.5:c.168G>T ENSP00000447620.1:p.Glu56Asp
ENST00000551988.5:n.257G>T
ENST00000553106.5:c.168G>T ENSP00000448059.1:p.Glu56Asp
ENST00000635500.1:n.136G>T
NM_000277.1:c.168G>T NP_000268.1:p.Glu56Asp
XM_011538422.1:c.168G>T XP_011536724.1:p.Glu56Asp
NM_000277.2:c.168G>T NP_000268.1:p.Glu56Asp
NM_001354304.1:c.168G>T NP_001341233.1:p.Glu56Asp
XM_017019370.2:c.168G>T XP_016874859.1:p.Glu56Asp
NM_000277.3:c.168G>T MANE Select NP_000268.1:p.Glu56Asp
NM_001354304.2:c.168G>T NP_001341233.1:p.Glu56Asp
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