Canonical Allele Identifier: CA2695217175
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912888_102912889dup , CM000674.2:g.102912888_102912889dup GRCh38
NC_000012.11:g.103306666_103306667dup , CM000674.1:g.103306666_103306667dup GRCh37
NC_000012.10:g.101830796_101830797dup NCBI36
NG_008690.1:g.9717_9718dup
NG_008690.2:g.50525_50526dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.73_74dup MANE Select ENSP00000448059.1:p.Glu26LeufsTer13
ENST00000307000.7:c.58_59dup ENSP00000303500.2:p.Glu21LeufsTer13
ENST00000546844.1:c.73_74dup ENSP00000446658.1:p.Glu26LeufsTer13
ENST00000548677.2:n.160_161dup
ENST00000549111.5:n.169_170dup
ENST00000550978.6:c.57_58dup
ENST00000551337.5:c.73_74dup ENSP00000447620.1:p.Glu26LeufsTer13
ENST00000551988.5:n.162_163dup
ENST00000553106.5:c.73_74dup ENSP00000448059.1:p.Glu26LeufsTer13
ENST00000635500.1:n.41_42dup
NM_000277.1:c.73_74dup NP_000268.1:p.Glu26LeufsTer13
XM_011538422.1:c.73_74dup XP_011536724.1:p.Glu26LeufsTer13
NM_000277.2:c.73_74dup NP_000268.1:p.Glu26LeufsTer13
NM_001354304.1:c.73_74dup NP_001341233.1:p.Glu26LeufsTer13
XM_017019370.2:c.73_74dup XP_016874859.1:p.Glu26LeufsTer13
NM_000277.3:c.73_74dup MANE Select NP_000268.1:p.Glu26LeufsTer13
NM_001354304.2:c.73_74dup NP_001341233.1:p.Glu26LeufsTer13
Search 100 bp 5'
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