Canonical Allele Identifier: CA3194748088
Community Standard Title: NM_000277.3(PAH):c.1167A= (p.Ala389=)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843678T= , CM000674.2:g.102843678T= GRCh38
NC_000012.11:g.103237456T= , CM000674.1:g.103237456T= GRCh37
NC_000012.10:g.101761586T= NCBI36
NG_008690.1:g.78925A=
NG_008690.2:g.119733A=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1167A= MANE Select NP_000268.1:p.Ala389=
ENST00000553106.6:c.1167A= MANE Select ENSP00000448059.1:p.Ala389=
NM_000277.1:c.1167A= NP_000268.1:p.Ala389=
NM_000277.2:c.1167A= NP_000268.1:p.Ala389=
NM_001354304.1:c.1167A= NP_001341233.1:p.Ala389=
NM_001354304.2:c.1167A= NP_001341233.1:p.Ala389=
ENST00000307000.7:c.1152A= ENSP00000303500.2:p.Ala384=
ENST00000549247.6:n.926A=
ENST00000551114.2:n.829A=
ENST00000553106.5:c.1167A= ENSP00000448059.1:p.Ala389=
ENST00000635477.1:c.271A=
ENST00000635528.1:n.682A=
XM_011538422.1:c.1110A= XP_011536724.1:p.Ala370=
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