Canonical Allele Identifier: CA2059456945
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866546G= , CM000674.2:g.102866546G= GRCh38
NC_000012.11:g.103260324G= , CM000674.1:g.103260324G= GRCh37
NC_000012.10:g.101784454G= NCBI36
NG_008690.1:g.56057C=
NG_008690.2:g.96865C=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.509+50C= MANE Select ENSP00000448059.1:n.509+50C=
ENST00000307000.7:c.494+50C= ENSP00000303500.2:n.494+50C=
ENST00000549111.5:n.605+50C=
ENST00000551988.5:n.530+10916C=
ENST00000553106.5:c.509+50C= ENSP00000448059.1:n.509+50C=
NM_000277.1:c.509+50C= NP_000268.1:n.509+50C=
XM_011538422.1:c.509+50C= XP_011536724.1:n.509+50C=
NM_000277.2:c.509+50C= NP_000268.1:n.509+50C=
NM_001354304.1:c.509+50C= NP_001341233.1:n.509+50C=
XM_017019370.2:c.509+50C= XP_016874859.1:n.509+50C=
NM_000277.3:c.509+50C= MANE Select NP_000268.1:n.509+50C=
NM_001354304.2:c.509+50C= NP_001341233.1:n.509+50C=
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