Canonical Allele Identifier: CA2059476151
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917073G= , CM000674.2:g.102917073G= GRCh38
NC_000012.11:g.103310851G= , CM000674.1:g.103310851G= GRCh37
NC_000012.10:g.101834981G= NCBI36
NG_008690.1:g.5530C=
NG_008690.2:g.46338C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.58C= MANE Select ENSP00000448059.1:p.Gln20=
ENST00000307000.7:c.-90C= ENSP00000303500.2:n.-90C=
ENST00000546844.1:c.58C= ENSP00000446658.1:p.Gln20=
ENST00000547319.1:n.369C=
ENST00000549111.5:n.154C=
ENST00000550978.6:c.42C=
ENST00000551337.5:c.58C= ENSP00000447620.1:p.Gln20=
ENST00000551988.5:n.147C=
ENST00000553106.5:c.58C= ENSP00000448059.1:p.Gln20=
ENST00000635500.1:n.29-4175C=
NM_000277.1:c.58C= NP_000268.1:p.Gln20=
XM_011538422.1:c.58C= XP_011536724.1:p.Gln20=
NM_000277.2:c.58C= NP_000268.1:p.Gln20=
NM_001354304.1:c.58C= NP_001341233.1:p.Gln20=
XM_017019370.2:c.58C= XP_016874859.1:p.Gln20=
NM_000277.3:c.58C= MANE Select NP_000268.1:p.Gln20=
NM_001354304.2:c.58C= NP_001341233.1:p.Gln20=
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