Canonical Allele Identifier: CA2059451323
Community Standard Title: NM_000277.3(PAH):c.955G= (p.Glu319=)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846909C= , CM000674.2:g.102846909C= GRCh38
NC_000012.11:g.103240687C= , CM000674.1:g.103240687C= GRCh37
NC_000012.10:g.101764817C= NCBI36
NG_008690.1:g.75694G=
NG_008690.2:g.116502G=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.955G= MANE Select NP_000268.1:p.Glu319=
ENST00000553106.6:c.955G= MANE Select ENSP00000448059.1:p.Glu319=
NM_000277.1:c.955G= NP_000268.1:p.Glu319=
NM_000277.2:c.955G= NP_000268.1:p.Glu319=
NM_001354304.1:c.955G= NP_001341233.1:p.Glu319=
NM_001354304.2:c.955G= NP_001341233.1:p.Glu319=
ENST00000307000.7:c.940G= ENSP00000303500.2:p.Glu314=
ENST00000549247.6:n.714G=
ENST00000551114.2:n.617G=
ENST00000553106.5:c.955G= ENSP00000448059.1:p.Glu319=
ENST00000635477.1:c.74-2478G=
ENST00000635528.1:n.470G=
XM_011538422.1:c.913-2478G= XP_011536724.1:n.913-2478G=
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