Canonical Allele Identifier: CA2059467290
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894929G= , CM000674.2:g.102894929G= GRCh38
NC_000012.11:g.103288707G= , CM000674.1:g.103288707G= GRCh37
NC_000012.10:g.101812837G= NCBI36
NG_008690.1:g.27674C=
NG_008690.2:g.68482C=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.169-11C= MANE Select ENSP00000448059.1:n.169-11C=
ENST00000307000.7:c.154-11C= ENSP00000303500.2:n.154-11C=
ENST00000546844.1:c.169-11C= ENSP00000446658.1:n.169-11C=
ENST00000548677.2:n.256-11C=
ENST00000548928.1:n.91-11C=
ENST00000549111.5:n.265-11C=
ENST00000550978.6:c.153-11C=
ENST00000551337.5:c.169-11C= ENSP00000447620.1:n.169-11C=
ENST00000551988.5:n.258-11C=
ENST00000553106.5:c.169-11C= ENSP00000448059.1:n.169-11C=
ENST00000635500.1:n.137-11C=
NM_000277.1:c.169-11C= NP_000268.1:n.169-11C=
XM_011538422.1:c.169-11C= XP_011536724.1:n.169-11C=
NM_000277.2:c.169-11C= NP_000268.1:n.169-11C=
NM_001354304.1:c.169-11C= NP_001341233.1:n.169-11C=
XM_017019370.2:c.169-11C= XP_016874859.1:n.169-11C=
NM_000277.3:c.169-11C= MANE Select NP_000268.1:n.169-11C=
NM_001354304.2:c.169-11C= NP_001341233.1:n.169-11C=
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