Canonical Allele Identifier: CA2059473119
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912719T= , CM000674.2:g.102912719T= GRCh38
NC_000012.11:g.103306497T= , CM000674.1:g.103306497T= GRCh37
NC_000012.10:g.101830627T= NCBI36
NG_008690.1:g.9884A=
NG_008690.2:g.50692A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.168+72A= MANE Select ENSP00000448059.1:n.168+72A=
ENST00000307000.7:c.153+72A= ENSP00000303500.2:n.153+72A=
ENST00000546844.1:c.168+72A= ENSP00000446658.1:n.168+72A=
ENST00000548677.2:n.255+72A=
ENST00000548928.1:n.90+72A=
ENST00000549111.5:n.264+72A=
ENST00000550978.6:c.152+72A=
ENST00000551337.5:c.168+72A= ENSP00000447620.1:n.168+72A=
ENST00000551988.5:n.257+72A=
ENST00000553106.5:c.168+72A= ENSP00000448059.1:n.168+72A=
ENST00000635500.1:n.136+72A=
NM_000277.1:c.168+72A= NP_000268.1:n.168+72A=
XM_011538422.1:c.168+72A= XP_011536724.1:n.168+72A=
NM_000277.2:c.168+72A= NP_000268.1:n.168+72A=
NM_001354304.1:c.168+72A= NP_001341233.1:n.168+72A=
XM_017019370.2:c.168+72A= XP_016874859.1:n.168+72A=
NM_000277.3:c.168+72A= MANE Select NP_000268.1:n.168+72A=
NM_001354304.2:c.168+72A= NP_001341233.1:n.168+72A=
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