Canonical Allele Identifier: CA2059449306
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855193A= , CM000674.2:g.102855193A= GRCh38
NC_000012.11:g.103248971A= , CM000674.1:g.103248971A= GRCh37
NC_000012.10:g.101773101A= NCBI36
NG_008690.1:g.67410T=
NG_008690.2:g.108218T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.649T= MANE Select ENSP00000448059.1:p.Cys217=
ENST00000307000.7:c.634T= ENSP00000303500.2:p.Cys212=
ENST00000549111.5:n.745T=
ENST00000553106.5:c.649T= ENSP00000448059.1:p.Cys217=
NM_000277.1:c.649T= NP_000268.1:p.Cys217=
XM_011538422.1:c.649T= XP_011536724.1:p.Cys217=
NM_000277.2:c.649T= NP_000268.1:p.Cys217=
NM_001354304.1:c.649T= NP_001341233.1:p.Cys217=
XM_017019370.2:c.649T= XP_016874859.1:p.Cys217=
NM_000277.3:c.649T= MANE Select NP_000268.1:p.Cys217=
NM_001354304.2:c.649T= NP_001341233.1:p.Cys217=
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