Canonical Allele Identifier: CA2059476191
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917142G= , CM000674.2:g.102917142G= GRCh38
NC_000012.11:g.103310920G= , CM000674.1:g.103310920G= GRCh37
NC_000012.10:g.101835050G= NCBI36
NG_008690.1:g.5461C=
NG_008690.2:g.46269C=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.-12C= MANE Select ENSP00000448059.1:n.-12C=
ENST00000307000.7:c.-159C= ENSP00000303500.2:n.-159C=
ENST00000546844.1:c.-12C= ENSP00000446658.1:n.-12C=
ENST00000547319.1:n.300C=
ENST00000549111.5:n.85C=
ENST00000551337.5:c.-12C= ENSP00000447620.1:n.-12C=
ENST00000551988.5:n.78C=
ENST00000553106.5:c.-12C= ENSP00000448059.1:n.-12C=
ENST00000635500.1:n.29-4244C=
NM_000277.1:c.-12C= NP_000268.1:n.-12C=
XM_011538422.1:c.-12C= XP_011536724.1:n.-12C=
NM_000277.2:c.-12C= NP_000268.1:n.-12C=
NM_001354304.1:c.-12C= NP_001341233.1:n.-12C=
XM_017019370.2:c.-12C= XP_016874859.1:n.-12C=
NM_000277.3:c.-12C= MANE Select NP_000268.1:n.-12C=
NM_001354304.2:c.-12C= NP_001341233.1:n.-12C=
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