Canonical Allele Identifier: CA2059451237
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846888G= , CM000674.2:g.102846888G= GRCh38
NC_000012.11:g.103240666G= , CM000674.1:g.103240666G= GRCh37
NC_000012.10:g.101764796G= NCBI36
NG_008690.1:g.75715C=
NG_008690.2:g.116523C=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.969+7C= MANE Select ENSP00000448059.1:n.969+7C=
ENST00000307000.7:c.954+7C= ENSP00000303500.2:n.954+7C=
ENST00000549247.6:n.728+7C=
ENST00000551114.2:n.631+7C=
ENST00000553106.5:c.969+7C= ENSP00000448059.1:n.969+7C=
ENST00000635477.1:c.74-2457C=
ENST00000635528.1:n.484+7C=
NM_000277.1:c.969+7C= NP_000268.1:n.969+7C=
XM_011538422.1:c.913-2457C= XP_011536724.1:n.913-2457C=
NM_000277.2:c.969+7C= NP_000268.1:n.969+7C=
NM_001354304.1:c.969+7C= NP_001341233.1:n.969+7C=
NM_000277.3:c.969+7C= MANE Select NP_000268.1:n.969+7C=
NM_001354304.2:c.969+7C= NP_001341233.1:n.969+7C=
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