Canonical Allele Identifier: CA2059447016
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102853205A= , CM000674.2:g.102853205A= GRCh38
NC_000012.11:g.103246983A= , CM000674.1:g.103246983A= GRCh37
NC_000012.10:g.101771113A= NCBI36
NG_008690.1:g.69398T=
NG_008690.2:g.110206T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.707-255T= MANE Select ENSP00000448059.1:n.707-255T=
ENST00000307000.7:c.692-255T= ENSP00000303500.2:n.692-255T=
ENST00000549247.6:n.211T=
ENST00000553106.5:c.707-255T= ENSP00000448059.1:n.707-255T=
NM_000277.1:c.707-255T= NP_000268.1:n.707-255T=
XM_011538422.1:c.707-255T= XP_011536724.1:n.707-255T=
NM_000277.2:c.707-255T= NP_000268.1:n.707-255T=
NM_001354304.1:c.707-255T= NP_001341233.1:n.707-255T=
NM_000277.3:c.707-255T= MANE Select NP_000268.1:n.707-255T=
NM_001354304.2:c.707-255T= NP_001341233.1:n.707-255T=
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