Canonical Allele Identifier: CA3194748065
Community Standard Title: NM_000277.3(PAH):c.1199+44T=
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843602A= , CM000674.2:g.102843602A= GRCh38
NC_000012.11:g.103237380A= , CM000674.1:g.103237380A= GRCh37
NC_000012.10:g.101761510A= NCBI36
NG_008690.1:g.79001T=
NG_008690.2:g.119809T=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1199+44T= MANE Select NP_000268.1:n.1199+44T=
ENST00000553106.6:c.1199+44T= MANE Select ENSP00000448059.1:n.1199+44T=
NM_000277.1:c.1199+44T= NP_000268.1:n.1199+44T=
NM_000277.2:c.1199+44T= NP_000268.1:n.1199+44T=
NM_001354304.1:c.1199+44T= NP_001341233.1:n.1199+44T=
NM_001354304.2:c.1199+44T= NP_001341233.1:n.1199+44T=
ENST00000307000.7:c.1184+44T= ENSP00000303500.2:n.1184+44T=
ENST00000549247.6:n.958+44T=
ENST00000551114.2:n.861+44T=
ENST00000553106.5:c.1199+44T= ENSP00000448059.1:n.1199+44T=
ENST00000635477.1:c.303+44T=
ENST00000635528.1:n.714+44T=
XM_011538422.1:c.1142+44T= XP_011536724.1:n.1142+44T=
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