Canonical Allele Identifier: CA2059441932
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840490G= , CM000674.2:g.102840490G= GRCh38
NC_000012.11:g.103234268G= , CM000674.1:g.103234268G= GRCh37
NC_000012.10:g.101758398G= NCBI36
NG_008690.1:g.82113C=
NG_008690.2:g.122921C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1225C= MANE Select ENSP00000448059.1:p.Pro409=
ENST00000307000.7:c.1210C= ENSP00000303500.2:p.Pro404=
ENST00000551114.2:n.887C=
ENST00000553106.5:c.1225C= ENSP00000448059.1:p.Pro409=
ENST00000635477.1:c.329C=
ENST00000635528.1:n.740C=
NM_000277.1:c.1225C= NP_000268.1:p.Pro409=
XM_011538422.1:c.1168C= XP_011536724.1:p.Pro390=
NM_000277.2:c.1225C= NP_000268.1:p.Pro409=
NM_001354304.1:c.1225C= NP_001341233.1:p.Pro409=
NM_000277.3:c.1225C= MANE Select NP_000268.1:p.Pro409=
NM_001354304.2:c.1225C= NP_001341233.1:p.Pro409=
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