Canonical Allele Identifier: CA2059449797
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855309T= , CM000674.2:g.102855309T= GRCh38
NC_000012.11:g.103249087T= , CM000674.1:g.103249087T= GRCh37
NC_000012.10:g.101773217T= NCBI36
NG_008690.1:g.67294A=
NG_008690.2:g.108102A=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.533A= MANE Select ENSP00000448059.1:p.Glu178=
ENST00000307000.7:c.518A= ENSP00000303500.2:p.Glu173=
ENST00000549111.5:n.629A=
ENST00000551988.5:n.554A=
ENST00000553106.5:c.533A= ENSP00000448059.1:p.Glu178=
NM_000277.1:c.533A= NP_000268.1:p.Glu178=
XM_011538422.1:c.533A= XP_011536724.1:p.Glu178=
NM_000277.2:c.533A= NP_000268.1:p.Glu178=
NM_001354304.1:c.533A= NP_001341233.1:p.Glu178=
XM_017019370.2:c.533A= XP_016874859.1:p.Glu178=
NM_000277.3:c.533A= MANE Select NP_000268.1:p.Glu178=
NM_001354304.2:c.533A= NP_001341233.1:p.Glu178=
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