Canonical Allele Identifier: CA3197744149
Community Standard Title: NM_000277.3(PAH):c.1168G= (p.Glu390=)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843677C= , CM000674.2:g.102843677C= GRCh38
NC_000012.11:g.103237455C= , CM000674.1:g.103237455C= GRCh37
NC_000012.10:g.101761585C= NCBI36
NG_008690.1:g.78926G=
NG_008690.2:g.119734G=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1168G= MANE Select NP_000268.1:p.Glu390=
ENST00000553106.6:c.1168G= MANE Select ENSP00000448059.1:p.Glu390=
NM_000277.1:c.1168G= NP_000268.1:p.Glu390=
NM_000277.2:c.1168G= NP_000268.1:p.Glu390=
NM_001354304.1:c.1168G= NP_001341233.1:p.Glu390=
NM_001354304.2:c.1168G= NP_001341233.1:p.Glu390=
ENST00000307000.7:c.1153G= ENSP00000303500.2:p.Glu385=
ENST00000549247.6:n.927G=
ENST00000551114.2:n.830G=
ENST00000553106.5:c.1168G= ENSP00000448059.1:p.Glu390=
ENST00000635477.1:c.272G=
ENST00000635528.1:n.683G=
XM_011538422.1:c.1111G= XP_011536724.1:p.Glu371=
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