Canonical Allele Identifier: CA386493225
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 556882
ClinVar RCV Id: RCV000672945
dbSNP Id: rs1555203681
MyVariant Identifiers: chr12:g.103237479A>G (hg19) chr12:g.102843701A>G (hg38)
ERepo: CA386493225/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843701A>G , CM000674.2:g.102843701A>G GRCh38
NC_000012.11:g.103237479A>G , CM000674.1:g.103237479A>G GRCh37
NC_000012.10:g.101761609A>G NCBI36
NG_008690.1:g.78902T>C
NG_008690.2:g.119710T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1144T>C MANE Select ENSP00000448059.1:p.Phe382Leu
ENST00000307000.7:c.1129T>C ENSP00000303500.2:p.Phe377Leu
ENST00000549247.6:n.903T>C
ENST00000551114.2:n.806T>C
ENST00000553106.5:c.1144T>C ENSP00000448059.1:p.Phe382Leu
ENST00000635477.1:c.248T>C
ENST00000635528.1:n.659T>C
NM_000277.1:c.1144T>C NP_000268.1:p.Phe382Leu
XM_011538422.1:c.1087T>C XP_011536724.1:p.Phe363Leu
NM_000277.2:c.1144T>C NP_000268.1:p.Phe382Leu
NM_001354304.1:c.1144T>C NP_001341233.1:p.Phe382Leu
NM_000277.3:c.1144T>C MANE Select NP_000268.1:p.Phe382Leu
NM_001354304.2:c.1144T>C NP_001341233.1:p.Phe382Leu
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