Canonical Allele Identifier: CA2059448126
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844360G= , CM000674.2:g.102844360G= GRCh38
NC_000012.11:g.103238138G= , CM000674.1:g.103238138G= GRCh37
NC_000012.10:g.101762268G= NCBI36
NG_008690.1:g.78243C=
NG_008690.2:g.119051C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1041C= MANE Select ENSP00000448059.1:p.Leu347=
ENST00000307000.7:c.1026C= ENSP00000303500.2:p.Leu342=
ENST00000549247.6:n.800C=
ENST00000551114.2:n.703C=
ENST00000553106.5:c.1041C= ENSP00000448059.1:p.Leu347=
ENST00000635477.1:c.145C=
ENST00000635528.1:n.556C=
NM_000277.1:c.1041C= NP_000268.1:p.Leu347=
XM_011538422.1:c.984C= XP_011536724.1:p.Leu328=
NM_000277.2:c.1041C= NP_000268.1:p.Leu347=
NM_001354304.1:c.1041C= NP_001341233.1:p.Leu347=
NM_000277.3:c.1041C= MANE Select NP_000268.1:p.Leu347=
NM_001354304.2:c.1041C= NP_001341233.1:p.Leu347=
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