Canonical Allele Identifier: CA2950809079
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843664dup , CM000674.2:g.102843664dup GRCh38
NC_000012.11:g.103237442dup , CM000674.1:g.103237442dup GRCh37
NC_000012.10:g.101761572dup NCBI36
NG_008690.1:g.78939dup
NG_008690.2:g.119747dup

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1181dup MANE Select NP_000268.1:p.Asp394GlufsTer29
ENST00000553106.6:c.1181dup MANE Select ENSP00000448059.1:p.Asp394GlufsTer29
NM_000277.1:c.1181dup NP_000268.1:p.Asp394GlufsTer29
NM_000277.2:c.1181dup NP_000268.1:p.Asp394GlufsTer29
NM_001354304.1:c.1181dup NP_001341233.1:p.Asp394GlufsTer29
NM_001354304.2:c.1181dup NP_001341233.1:p.Asp394GlufsTer29
ENST00000307000.7:c.1166dup ENSP00000303500.2:p.Asp389GlufsTer29
ENST00000549247.6:n.940dup
ENST00000551114.2:n.843dup
ENST00000553106.5:c.1181dup ENSP00000448059.1:p.Asp394GlufsTer29
ENST00000635477.1:c.285dup
ENST00000635528.1:n.696dup
XM_011538422.1:c.1124dup XP_011536724.1:p.Asp375GlufsTer29
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