Canonical Allele Identifier: CA2059441276
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840347C= , CM000674.2:g.102840347C= GRCh38
NC_000012.11:g.103234125C= , CM000674.1:g.103234125C= GRCh37
NC_000012.10:g.101758255C= NCBI36
NG_008690.1:g.82256G=
NG_008690.2:g.123064G=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+53G= MANE Select ENSP00000448059.1:n.1315+53G=
ENST00000307000.7:c.1300+53G= ENSP00000303500.2:n.1300+53G=
ENST00000551114.2:n.977+53G=
ENST00000553106.5:c.1315+53G= ENSP00000448059.1:n.1315+53G=
ENST00000635477.1:c.419+53G=
ENST00000635528.1:n.830+53G=
NM_000277.1:c.1315+53G= NP_000268.1:n.1315+53G=
XM_011538422.1:c.1258+53G= XP_011536724.1:n.1258+53G=
NM_000277.2:c.1315+53G= NP_000268.1:n.1315+53G=
NM_001354304.1:c.1315+53G= NP_001341233.1:n.1315+53G=
NM_000277.3:c.1315+53G= MANE Select NP_000268.1:n.1315+53G=
NM_001354304.2:c.1315+53G= NP_001341233.1:n.1315+53G=
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