Canonical Allele Identifier: CA2059441507
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840411T= , CM000674.2:g.102840411T= GRCh38
NC_000012.11:g.103234189T= , CM000674.1:g.103234189T= GRCh37
NC_000012.10:g.101758319T= NCBI36
NG_008690.1:g.82192A=
NG_008690.2:g.123000A=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1304A= MANE Select ENSP00000448059.1:p.Asp435=
ENST00000307000.7:c.1289A= ENSP00000303500.2:p.Asp430=
ENST00000551114.2:n.966A=
ENST00000553106.5:c.1304A= ENSP00000448059.1:p.Asp435=
ENST00000635477.1:c.408A=
ENST00000635528.1:n.819A=
NM_000277.1:c.1304A= NP_000268.1:p.Asp435=
XM_011538422.1:c.1247A= XP_011536724.1:p.Asp416=
NM_000277.2:c.1304A= NP_000268.1:p.Asp435=
NM_001354304.1:c.1304A= NP_001341233.1:p.Asp435=
NM_000277.3:c.1304A= MANE Select NP_000268.1:p.Asp435=
NM_001354304.2:c.1304A= NP_001341233.1:p.Asp435=
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