Canonical Allele Identifier: CA2059446100
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843535A= , CM000674.2:g.102843535A= GRCh38
NC_000012.11:g.103237313A= , CM000674.1:g.103237313A= GRCh37
NC_000012.10:g.101761443A= NCBI36
NG_008690.1:g.79068T=
NG_008690.2:g.119876T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1199+111T= MANE Select ENSP00000448059.1:n.1199+111T=
ENST00000307000.7:c.1184+111T= ENSP00000303500.2:n.1184+111T=
ENST00000549247.6:n.958+111T=
ENST00000551114.2:n.861+111T=
ENST00000553106.5:c.1199+111T= ENSP00000448059.1:n.1199+111T=
ENST00000635477.1:c.303+111T=
ENST00000635528.1:n.714+111T=
NM_000277.1:c.1199+111T= NP_000268.1:n.1199+111T=
XM_011538422.1:c.1142+111T= XP_011536724.1:n.1142+111T=
NM_000277.2:c.1199+111T= NP_000268.1:n.1199+111T=
NM_001354304.1:c.1199+111T= NP_001341233.1:n.1199+111T=
NM_000277.3:c.1199+111T= MANE Select NP_000268.1:n.1199+111T=
NM_001354304.2:c.1199+111T= NP_001341233.1:n.1199+111T=
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