Canonical Allele Identifier: CA229609
Gene: PAH HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
MyVariant.info:
GRCh38 chr12:g.102855313C>T
GRCh37 chr12:g.103249091C>T
Revel Score:
ENST00000553106 (MANE Select) 0.890
ENST00000307000 0.890
gnomAD v2:
12:103249091 C / T
gnomAD v3:
12:102855313 C / T
gnomAD v4:
chr12-102855313-C-T
Joint Max Group AF 0.00042899 (MID)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00045303 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855313C>T , CM000674.2:g.102855313C>T GRCh38
NC_000012.11:g.103249091C>T , CM000674.1:g.103249091C>T GRCh37
NC_000012.10:g.101773221C>T NCBI36
NG_008690.1:g.67290G>A
NG_008690.2:g.108098G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.529G>A MANE Select ENSP00000448059.1:p.Val177Met
ENST00000307000.7:c.514G>A ENSP00000303500.2:p.Val172Met
ENST00000549111.5:n.625G>A
ENST00000551988.5:n.550G>A
ENST00000553106.5:c.529G>A ENSP00000448059.1:p.Val177Met
NM_000277.1:c.529G>A NP_000268.1:p.Val177Met
XM_011538422.1:c.529G>A XP_011536724.1:p.Val177Met
NM_000277.2:c.529G>A NP_000268.1:p.Val177Met
NM_001354304.1:c.529G>A NP_001341233.1:p.Val177Met
XM_017019370.2:c.529G>A XP_016874859.1:p.Val177Met
NM_000277.3:c.529G>A MANE Select NP_000268.1:p.Val177Met
NM_001354304.2:c.529G>A NP_001341233.1:p.Val177Met
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