Canonical Allele Identifier: CA2059467116
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894894T= , CM000674.2:g.102894894T= GRCh38
NC_000012.11:g.103288672T= , CM000674.1:g.103288672T= GRCh37
NC_000012.10:g.101812802T= NCBI36
NG_008690.1:g.27709A=
NG_008690.2:g.68517A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.193A= MANE Select ENSP00000448059.1:p.Ile65=
ENST00000307000.7:c.178A= ENSP00000303500.2:p.Ile60=
ENST00000546844.1:c.193A= ENSP00000446658.1:p.Ile65=
ENST00000548677.2:n.280A=
ENST00000548928.1:n.115A=
ENST00000549111.5:n.289A=
ENST00000550978.6:c.177A=
ENST00000551337.5:c.193A= ENSP00000447620.1:p.Ile65=
ENST00000551988.5:n.282A=
ENST00000553106.5:c.193A= ENSP00000448059.1:p.Ile65=
ENST00000635500.1:n.161A=
NM_000277.1:c.193A= NP_000268.1:p.Ile65=
XM_011538422.1:c.193A= XP_011536724.1:p.Ile65=
NM_000277.2:c.193A= NP_000268.1:p.Ile65=
NM_001354304.1:c.193A= NP_001341233.1:p.Ile65=
XM_017019370.2:c.193A= XP_016874859.1:p.Ile65=
NM_000277.3:c.193A= MANE Select NP_000268.1:p.Ile65=
NM_001354304.2:c.193A= NP_001341233.1:p.Ile65=
Search 100 bp 5'
Search 100 bp 3'