Canonical Allele Identifier: CA2059462478
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877496A= , CM000674.2:g.102877496A= GRCh38
NC_000012.11:g.103271274A= , CM000674.1:g.103271274A= GRCh37
NC_000012.10:g.101795404A= NCBI36
NG_008690.1:g.45107T=
NG_008690.2:g.85915T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.407T= MANE Select ENSP00000448059.1:p.Leu136=
ENST00000307000.7:c.392T= ENSP00000303500.2:p.Leu131=
ENST00000549111.5:n.503T=
ENST00000550978.6:c.391T=
ENST00000551337.5:c.407T= ENSP00000447620.1:p.Leu136=
ENST00000551988.5:n.496T=
ENST00000553106.5:c.407T= ENSP00000448059.1:p.Leu136=
NM_000277.1:c.407T= NP_000268.1:p.Leu136=
XM_011538422.1:c.407T= XP_011536724.1:p.Leu136=
NM_000277.2:c.407T= NP_000268.1:p.Leu136=
NM_001354304.1:c.407T= NP_001341233.1:p.Leu136=
XM_017019370.2:c.407T= XP_016874859.1:p.Leu136=
NM_000277.3:c.407T= MANE Select NP_000268.1:p.Leu136=
NM_001354304.2:c.407T= NP_001341233.1:p.Leu136=
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