Canonical Allele Identifier: CA2059446331
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843656C= , CM000674.2:g.102843656C= GRCh38
NC_000012.11:g.103237434C= , CM000674.1:g.103237434C= GRCh37
NC_000012.10:g.101761564C= NCBI36
NG_008690.1:g.78947G=
NG_008690.2:g.119755G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1189G= MANE Select ENSP00000448059.1:p.Glu397=
ENST00000307000.7:c.1174G= ENSP00000303500.2:p.Glu392=
ENST00000549247.6:n.948G=
ENST00000551114.2:n.851G=
ENST00000553106.5:c.1189G= ENSP00000448059.1:p.Glu397=
ENST00000635477.1:c.293G=
ENST00000635528.1:n.704G=
NM_000277.1:c.1189G= NP_000268.1:p.Glu397=
XM_011538422.1:c.1132G= XP_011536724.1:p.Glu378=
NM_000277.2:c.1189G= NP_000268.1:p.Glu397=
NM_001354304.1:c.1189G= NP_001341233.1:p.Glu397=
NM_000277.3:c.1189G= MANE Select NP_000268.1:p.Glu397=
NM_001354304.2:c.1189G= NP_001341233.1:p.Glu397=
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