Canonical Allele Identifier: CA2695217166
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894752dup , CM000674.2:g.102894752dup GRCh38
NC_000012.11:g.103288530dup , CM000674.1:g.103288530dup GRCh37
NC_000012.10:g.101812660dup NCBI36
NG_008690.1:g.27851dup
NG_008690.2:g.68659dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.335dup MANE Select ENSP00000448059.1:p.Asp112GlufsTer2
ENST00000307000.7:c.320dup ENSP00000303500.2:p.Asp107GlufsTer2
ENST00000546844.1:c.335dup ENSP00000446658.1:p.Asp112GlufsTer2
ENST00000548928.1:n.257dup
ENST00000549111.5:n.431dup
ENST00000550978.6:c.319dup
ENST00000551337.5:c.335dup ENSP00000447620.1:p.Asp112GlufsTer2
ENST00000551988.5:n.424dup
ENST00000553106.5:c.335dup ENSP00000448059.1:p.Asp112GlufsTer2
NM_000277.1:c.335dup NP_000268.1:p.Asp112GlufsTer2
XM_011538422.1:c.335dup XP_011536724.1:p.Asp112GlufsTer2
NM_000277.2:c.335dup NP_000268.1:p.Asp112GlufsTer2
NM_001354304.1:c.335dup NP_001341233.1:p.Asp112GlufsTer2
XM_017019370.2:c.335dup XP_016874859.1:p.Asp112GlufsTer2
NM_000277.3:c.335dup MANE Select NP_000268.1:p.Asp112GlufsTer2
NM_001354304.2:c.335dup NP_001341233.1:p.Asp112GlufsTer2
Search 100 bp 5'
Search 100 bp 3'