Canonical Allele Identifier: CA229439
Gene: PAH HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
MyVariant.info:
GRCh38 chr12:g.102912823C>T
GRCh37 chr12:g.103306601C>T
Revel Score:
ENST00000553106 (MANE Select) 0.898
ENST00000307000 0.898
ENST00000551337 0.898
ENST00000546844 0.898
gnomAD v2:
12:103306601 C / T
gnomAD v3:
12:102912823 C / T
gnomAD v4:
chr12-102912823-C-T
Joint Max Group AF 0.00004512 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.0000444 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912823C>T , CM000674.2:g.102912823C>T GRCh38
NC_000012.11:g.103306601C>T , CM000674.1:g.103306601C>T GRCh37
NC_000012.10:g.101830731C>T NCBI36
NG_008690.1:g.9780G>A
NG_008690.2:g.50588G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.136G>A MANE Select ENSP00000448059.1:p.Gly46Ser
ENST00000307000.7:c.121G>A ENSP00000303500.2:p.Gly41Ser
ENST00000546844.1:c.136G>A ENSP00000446658.1:p.Gly46Ser
ENST00000548677.2:n.223G>A
ENST00000548928.1:n.58G>A
ENST00000549111.5:n.232G>A
ENST00000550978.6:c.120G>A
ENST00000551337.5:c.136G>A ENSP00000447620.1:p.Gly46Ser
ENST00000551988.5:n.225G>A
ENST00000553106.5:c.136G>A ENSP00000448059.1:p.Gly46Ser
ENST00000635500.1:n.104G>A
NM_000277.1:c.136G>A NP_000268.1:p.Gly46Ser
XM_011538422.1:c.136G>A XP_011536724.1:p.Gly46Ser
NM_000277.2:c.136G>A NP_000268.1:p.Gly46Ser
NM_001354304.1:c.136G>A NP_001341233.1:p.Gly46Ser
XM_017019370.2:c.136G>A XP_016874859.1:p.Gly46Ser
NM_000277.3:c.136G>A MANE Select NP_000268.1:p.Gly46Ser
NM_001354304.2:c.136G>A NP_001341233.1:p.Gly46Ser
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