Canonical Allele Identifier: CA3194752022
Community Standard Title: NM_000277.3(PAH):c.969+179A=
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846716T= , CM000674.2:g.102846716T= GRCh38
NC_000012.11:g.103240494T= , CM000674.1:g.103240494T= GRCh37
NC_000012.10:g.101764624T= NCBI36
NG_008690.1:g.75887A=
NG_008690.2:g.116695A=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.969+179A= MANE Select NP_000268.1:n.969+179A=
ENST00000553106.6:c.969+179A= MANE Select ENSP00000448059.1:n.969+179A=
NM_000277.1:c.969+179A= NP_000268.1:n.969+179A=
NM_000277.2:c.969+179A= NP_000268.1:n.969+179A=
NM_001354304.1:c.969+179A= NP_001341233.1:n.969+179A=
NM_001354304.2:c.969+179A= NP_001341233.1:n.969+179A=
ENST00000307000.7:c.954+179A= ENSP00000303500.2:n.954+179A=
ENST00000549247.6:n.728+179A=
ENST00000551114.2:n.631+179A=
ENST00000553106.5:c.969+179A= ENSP00000448059.1:n.969+179A=
ENST00000635477.1:c.74-2285A=
ENST00000635528.1:n.484+179A=
XM_011538422.1:c.913-2285A= XP_011536724.1:n.913-2285A=
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