Canonical Allele Identifier: CA2059451547
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846978T= , CM000674.2:g.102846978T= GRCh38
NC_000012.11:g.103240756T= , CM000674.1:g.103240756T= GRCh37
NC_000012.10:g.101764886T= NCBI36
NG_008690.1:g.75625A=
NG_008690.2:g.116433A=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.913-27A= MANE Select ENSP00000448059.1:n.913-27A=
ENST00000307000.7:c.898-27A= ENSP00000303500.2:n.898-27A=
ENST00000549247.6:n.672-27A=
ENST00000551114.2:n.575-27A=
ENST00000553106.5:c.913-27A= ENSP00000448059.1:n.913-27A=
ENST00000635477.1:c.74-2547A=
ENST00000635528.1:n.401A=
NM_000277.1:c.913-27A= NP_000268.1:n.913-27A=
XM_011538422.1:c.913-2547A= XP_011536724.1:n.913-2547A=
NM_000277.2:c.913-27A= NP_000268.1:n.913-27A=
NM_001354304.1:c.913-27A= NP_001341233.1:n.913-27A=
NM_000277.3:c.913-27A= MANE Select NP_000268.1:n.913-27A=
NM_001354304.2:c.913-27A= NP_001341233.1:n.913-27A=
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