Canonical Allele Identifier: CA229875
Gene: PAH HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
MyVariant.info:
GRCh38 chr12:g.102846900C>T
GRCh37 chr12:g.103240678C>T
Revel Score:
ENST00000553106 (MANE Select) 0.889
ENST00000307000 0.889
gnomAD v2:
12:103240678 C / T
gnomAD v3:
12:102846900 C / T
gnomAD v4:
chr12-102846900-C-T
Joint Max Group AF 0.00014504 (SAS)
Genomes Max Group AF 0.00004741 (AFR)
Exomes Max Group AF 0.00015302 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846900C>T , CM000674.2:g.102846900C>T GRCh38
NC_000012.11:g.103240678C>T , CM000674.1:g.103240678C>T GRCh37
NC_000012.10:g.101764808C>T NCBI36
NG_008690.1:g.75703G>A
NG_008690.2:g.116511G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.964G>A MANE Select ENSP00000448059.1:p.Ala322Thr
ENST00000307000.7:c.949G>A ENSP00000303500.2:p.Ala317Thr
ENST00000549247.6:n.723G>A
ENST00000551114.2:n.626G>A
ENST00000553106.5:c.964G>A ENSP00000448059.1:p.Ala322Thr
ENST00000635477.1:c.74-2469G>A
ENST00000635528.1:n.479G>A
NM_000277.1:c.964G>A NP_000268.1:p.Ala322Thr
XM_011538422.1:c.913-2469G>A XP_011536724.1:n.913-2469G>A
NM_000277.2:c.964G>A NP_000268.1:p.Ala322Thr
NM_001354304.1:c.964G>A NP_001341233.1:p.Ala322Thr
NM_000277.3:c.964G>A MANE Select NP_000268.1:p.Ala322Thr
NM_001354304.2:c.964G>A NP_001341233.1:p.Ala322Thr
Search 100 bp 5'
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