Canonical Allele Identifier: CA3197746889
Community Standard Title: NM_000277.3(PAH):c.946G= (p.Glu316=)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846918C= , CM000674.2:g.102846918C= GRCh38
NC_000012.11:g.103240696C= , CM000674.1:g.103240696C= GRCh37
NC_000012.10:g.101764826C= NCBI36
NG_008690.1:g.75685G=
NG_008690.2:g.116493G=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.946G= MANE Select NP_000268.1:p.Glu316=
ENST00000553106.6:c.946G= MANE Select ENSP00000448059.1:p.Glu316=
NM_000277.1:c.946G= NP_000268.1:p.Glu316=
NM_000277.2:c.946G= NP_000268.1:p.Glu316=
NM_001354304.1:c.946G= NP_001341233.1:p.Glu316=
NM_001354304.2:c.946G= NP_001341233.1:p.Glu316=
ENST00000307000.7:c.931G= ENSP00000303500.2:p.Glu311=
ENST00000549247.6:n.705G=
ENST00000551114.2:n.608G=
ENST00000553106.5:c.946G= ENSP00000448059.1:p.Glu316=
ENST00000635477.1:c.74-2487G=
ENST00000635528.1:n.461G=
XM_011538422.1:c.913-2487G= XP_011536724.1:n.913-2487G=
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