Canonical Allele Identifier: CA2059441302
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840360C= , CM000674.2:g.102840360C= GRCh38
NC_000012.11:g.103234138C= , CM000674.1:g.103234138C= GRCh37
NC_000012.10:g.101758268C= NCBI36
NG_008690.1:g.82243G=
NG_008690.2:g.123051G=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+40G= MANE Select ENSP00000448059.1:n.1315+40G=
ENST00000307000.7:c.1300+40G= ENSP00000303500.2:n.1300+40G=
ENST00000551114.2:n.977+40G=
ENST00000553106.5:c.1315+40G= ENSP00000448059.1:n.1315+40G=
ENST00000635477.1:c.419+40G=
ENST00000635528.1:n.830+40G=
NM_000277.1:c.1315+40G= NP_000268.1:n.1315+40G=
XM_011538422.1:c.1258+40G= XP_011536724.1:n.1258+40G=
NM_000277.2:c.1315+40G= NP_000268.1:n.1315+40G=
NM_001354304.1:c.1315+40G= NP_001341233.1:n.1315+40G=
NM_000277.3:c.1315+40G= MANE Select NP_000268.1:n.1315+40G=
NM_001354304.2:c.1315+40G= NP_001341233.1:n.1315+40G=
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