Canonical Allele Identifier: CA2979026068
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840323dup , CM000674.2:g.102840323dup GRCh38
NC_000012.11:g.103234101dup , CM000674.1:g.103234101dup GRCh37
NC_000012.10:g.101758231dup NCBI36
NG_008690.1:g.82284dup
NG_008690.2:g.123092dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1315+81dup MANE Select ENSP00000448059.1:n.1315+81dup
ENST00000307000.7:c.1300+81dup ENSP00000303500.2:n.1300+81dup
ENST00000551114.2:n.977+81dup
ENST00000553106.5:c.1315+81dup ENSP00000448059.1:n.1315+81dup
ENST00000635477.1:c.419+81dup
ENST00000635528.1:n.830+81dup
NM_000277.1:c.1315+81dup NP_000268.1:n.1315+81dup
XM_011538422.1:c.1258+81dup XP_011536724.1:n.1258+81dup
NM_000277.2:c.1315+81dup NP_000268.1:n.1315+81dup
NM_001354304.1:c.1315+81dup NP_001341233.1:n.1315+81dup
NM_000277.3:c.1315+81dup MANE Select NP_000268.1:n.1315+81dup
NM_001354304.2:c.1315+81dup NP_001341233.1:n.1315+81dup
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