Canonical Allele Identifier: CA229585
Gene: PAH HGNC NCBI
ClinGen Evidence Repository:
Classification Uncertain Significance
Condition phenylketonuria
VCEP Phenylketonuria VCEP
MyVariant.info:
GRCh38 chr12:g.102866605T>C
GRCh37 chr12:g.103260383T>C
Revel Score:
ENST00000553106 (MANE Select) 0.377
ENST00000307000 0.377
gnomAD v2:
12:103260383 T / C
gnomAD v3:
12:102866605 T / C
gnomAD v4:
chr12-102866605-T-C
Joint Max Group AF 0.01330921 (AFR)
Genomes Max Group AF 0.01362233 (AFR)
Exomes Max Group AF 0.01228478 (AFR)
ClinVar RCV:
RCV000088951
RCV000148722
ClinVar Variation:
102703
dbSNP:
77554925
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866605T>C , CM000674.2:g.102866605T>C GRCh38
NC_000012.11:g.103260383T>C , CM000674.1:g.103260383T>C GRCh37
NC_000012.10:g.101784513T>C NCBI36
NG_008690.1:g.55998A>G
NG_008690.2:g.96806A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.500A>G MANE Select ENSP00000448059.1:p.Asn167Ser
ENST00000307000.7:c.485A>G ENSP00000303500.2:p.Asn162Ser
ENST00000549111.5:n.596A>G
ENST00000551988.5:n.530+10857A>G
ENST00000553106.5:c.500A>G ENSP00000448059.1:p.Asn167Ser
NM_000277.1:c.500A>G NP_000268.1:p.Asn167Ser
XM_011538422.1:c.500A>G XP_011536724.1:p.Asn167Ser
NM_000277.2:c.500A>G NP_000268.1:p.Asn167Ser
NM_001354304.1:c.500A>G NP_001341233.1:p.Asn167Ser
XM_017019370.2:c.500A>G XP_016874859.1:p.Asn167Ser
NM_000277.3:c.500A>G MANE Select NP_000268.1:p.Asn167Ser
NM_001354304.2:c.500A>G NP_001341233.1:p.Asn167Ser
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