Canonical Allele Identifier: CA2059449854
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855321A= , CM000674.2:g.102855321A= GRCh38
NC_000012.11:g.103249099A= , CM000674.1:g.103249099A= GRCh37
NC_000012.10:g.101773229A= NCBI36
NG_008690.1:g.67282T=
NG_008690.2:g.108090T=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.521T= MANE Select ENSP00000448059.1:p.Ile174=
ENST00000307000.7:c.506T= ENSP00000303500.2:p.Ile169=
ENST00000549111.5:n.617T=
ENST00000551988.5:n.542T=
ENST00000553106.5:c.521T= ENSP00000448059.1:p.Ile174=
NM_000277.1:c.521T= NP_000268.1:p.Ile174=
XM_011538422.1:c.521T= XP_011536724.1:p.Ile174=
NM_000277.2:c.521T= NP_000268.1:p.Ile174=
NM_001354304.1:c.521T= NP_001341233.1:p.Ile174=
XM_017019370.2:c.521T= XP_016874859.1:p.Ile174=
NM_000277.3:c.521T= MANE Select NP_000268.1:p.Ile174=
NM_001354304.2:c.521T= NP_001341233.1:p.Ile174=
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