Canonical Allele Identifier: CA2059444318
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851687C= , CM000674.2:g.102851687C= GRCh38
NC_000012.11:g.103245465C= , CM000674.1:g.103245465C= GRCh37
NC_000012.10:g.101769595C= NCBI36
NG_008690.1:g.70916G=
NG_008690.2:g.111724G=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.912G= MANE Select ENSP00000448059.1:p.Gln304=
ENST00000307000.7:c.897G= ENSP00000303500.2:p.Gln299=
ENST00000549247.6:n.671G=
ENST00000551114.2:n.574G=
ENST00000553106.5:c.912G= ENSP00000448059.1:p.Gln304=
ENST00000635477.1:c.73G=
NM_000277.1:c.912G= NP_000268.1:p.Gln304=
XM_011538422.1:c.912G= XP_011536724.1:p.Gln304=
NM_000277.2:c.912G= NP_000268.1:p.Gln304=
NM_001354304.1:c.912G= NP_001341233.1:p.Gln304=
NM_000277.3:c.912G= MANE Select NP_000268.1:p.Gln304=
NM_001354304.2:c.912G= NP_001341233.1:p.Gln304=
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