Canonical Allele Identifier: CA2059445731
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852677G= , CM000674.2:g.102852677G= GRCh38
NC_000012.11:g.103246455G= , CM000674.1:g.103246455G= GRCh37
NC_000012.10:g.101770585G= NCBI36
NG_008690.1:g.69926C=
NG_008690.2:g.110734C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.842+138C= MANE Select ENSP00000448059.1:n.842+138C=
ENST00000307000.7:c.827+138C= ENSP00000303500.2:n.827+138C=
ENST00000549247.6:n.601+138C=
ENST00000553106.5:c.842+138C= ENSP00000448059.1:n.842+138C=
ENST00000635477.1:c.3+138C=
NM_000277.1:c.842+138C= NP_000268.1:n.842+138C=
XM_011538422.1:c.842+138C= XP_011536724.1:n.842+138C=
NM_000277.2:c.842+138C= NP_000268.1:n.842+138C=
NM_001354304.1:c.842+138C= NP_001341233.1:n.842+138C=
NM_000277.3:c.842+138C= MANE Select NP_000268.1:n.842+138C=
NM_001354304.2:c.842+138C= NP_001341233.1:n.842+138C=
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