Canonical Allele Identifier: CA2059476148
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917070C= , CM000674.2:g.102917070C= GRCh38
NC_000012.11:g.103310848C= , CM000674.1:g.103310848C= GRCh37
NC_000012.10:g.101834978C= NCBI36
NG_008690.1:g.5533G=
NG_008690.2:g.46341G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+1G= MANE Select ENSP00000448059.1:n.60+1G=
ENST00000307000.7:c.-88+1G= ENSP00000303500.2:n.-88+1G=
ENST00000546844.1:c.60+1G= ENSP00000446658.1:n.60+1G=
ENST00000547319.1:n.371+1G=
ENST00000549111.5:n.156+1G=
ENST00000550978.6:c.44+1G=
ENST00000551337.5:c.60+1G= ENSP00000447620.1:n.60+1G=
ENST00000551988.5:n.149+1G=
ENST00000553106.5:c.60+1G= ENSP00000448059.1:n.60+1G=
ENST00000635500.1:n.29-4172G=
NM_000277.1:c.60+1G= NP_000268.1:n.60+1G=
XM_011538422.1:c.60+1G= XP_011536724.1:n.60+1G=
NM_000277.2:c.60+1G= NP_000268.1:n.60+1G=
NM_001354304.1:c.60+1G= NP_001341233.1:n.60+1G=
XM_017019370.2:c.60+1G= XP_016874859.1:n.60+1G=
NM_000277.3:c.60+1G= MANE Select NP_000268.1:n.60+1G=
NM_001354304.2:c.60+1G= NP_001341233.1:n.60+1G=
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