Canonical Allele Identifier: CA2059467163
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894900T= , CM000674.2:g.102894900T= GRCh38
NC_000012.11:g.103288678T= , CM000674.1:g.103288678T= GRCh37
NC_000012.10:g.101812808T= NCBI36
NG_008690.1:g.27703A=
NG_008690.2:g.68511A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.187A= MANE Select ENSP00000448059.1:p.Thr63=
ENST00000307000.7:c.172A= ENSP00000303500.2:p.Thr58=
ENST00000546844.1:c.187A= ENSP00000446658.1:p.Thr63=
ENST00000548677.2:n.274A=
ENST00000548928.1:n.109A=
ENST00000549111.5:n.283A=
ENST00000550978.6:c.171A=
ENST00000551337.5:c.187A= ENSP00000447620.1:p.Thr63=
ENST00000551988.5:n.276A=
ENST00000553106.5:c.187A= ENSP00000448059.1:p.Thr63=
ENST00000635500.1:n.155A=
NM_000277.1:c.187A= NP_000268.1:p.Thr63=
XM_011538422.1:c.187A= XP_011536724.1:p.Thr63=
NM_000277.2:c.187A= NP_000268.1:p.Thr63=
NM_001354304.1:c.187A= NP_001341233.1:p.Thr63=
XM_017019370.2:c.187A= XP_016874859.1:p.Thr63=
NM_000277.3:c.187A= MANE Select NP_000268.1:p.Thr63=
NM_001354304.2:c.187A= NP_001341233.1:p.Thr63=
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