Canonical Allele Identifier: CA3197744034
Community Standard Title: NM_000277.3(PAH):c.1199+130C=
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843516G= , CM000674.2:g.102843516G= GRCh38
NC_000012.11:g.103237294G= , CM000674.1:g.103237294G= GRCh37
NC_000012.10:g.101761424G= NCBI36
NG_008690.1:g.79087C=
NG_008690.2:g.119895C=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1199+130C= MANE Select NP_000268.1:n.1199+130C=
ENST00000553106.6:c.1199+130C= MANE Select ENSP00000448059.1:n.1199+130C=
NM_000277.1:c.1199+130C= NP_000268.1:n.1199+130C=
NM_000277.2:c.1199+130C= NP_000268.1:n.1199+130C=
NM_001354304.1:c.1199+130C= NP_001341233.1:n.1199+130C=
NM_001354304.2:c.1199+130C= NP_001341233.1:n.1199+130C=
ENST00000307000.7:c.1184+130C= ENSP00000303500.2:n.1184+130C=
ENST00000549247.6:n.958+130C=
ENST00000551114.2:n.861+130C=
ENST00000553106.5:c.1199+130C= ENSP00000448059.1:n.1199+130C=
ENST00000635477.1:c.303+130C=
ENST00000635528.1:n.714+130C=
XM_011538422.1:c.1142+130C= XP_011536724.1:n.1142+130C=
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