Canonical Allele Identifier: CA273108
Gene: PAH HGNC NCBI
ClinGen Classification:
Classification Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
ClinVar RCV:
RCV000078536
RCV000150084
RCV000590551
RCV001267463
ClinVar Variation:
92751
dbSNP:
5030853
gnomAD v2:
12:103245479 C / A
gnomAD v3:
12:102851701 C / A
gnomAD v4:
chr12-102851701-C-A
Joint Max Group AF 0.0013914 (MID)
Genomes Max Group AF 0.00018198 (NFE)
Exomes Max Group AF 0.00146707 (MID)
MyVariant.info:
GRCh38 chr12:g.102851701C>A
GRCh37 chr12:g.103245479C>A
Revel Score:
ENST00000553106 (MANE Select) 0.944
ENST00000307000 0.944
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851701C>A , CM000674.2:g.102851701C>A GRCh38
NC_000012.11:g.103245479C>A , CM000674.1:g.103245479C>A GRCh37
NC_000012.10:g.101769609C>A NCBI36
NG_008690.1:g.70902G>T
NG_008690.2:g.111710G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.898G>T MANE Select ENSP00000448059.1:p.Ala300Ser
ENST00000307000.7:c.883G>T ENSP00000303500.2:p.Ala295Ser
ENST00000549247.6:n.657G>T
ENST00000551114.2:n.560G>T
ENST00000553106.5:c.898G>T ENSP00000448059.1:p.Ala300Ser
ENST00000635477.1:c.59G>T
NM_000277.1:c.898G>T NP_000268.1:p.Ala300Ser
XM_011538422.1:c.898G>T XP_011536724.1:p.Ala300Ser
NM_000277.2:c.898G>T NP_000268.1:p.Ala300Ser
NM_001354304.1:c.898G>T NP_001341233.1:p.Ala300Ser
NM_000277.3:c.898G>T MANE Select NP_000268.1:p.Ala300Ser
NM_001354304.2:c.898G>T NP_001341233.1:p.Ala300Ser
Search 100 bp 5'
Search 100 bp 3'