Canonical Allele Identifier: CA2059473507

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912886T= , CM000674.2:g.102912886T=	GRCh38
NC_000012.11:g.103306664T= , CM000674.1:g.103306664T=	GRCh37
NC_000012.10:g.101830794T=	NCBI36
NG_008690.1:g.9717A=
NG_008690.2:g.50525A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.73A= MANE Select	ENSP00000448059.1:p.Ile25=
ENST00000307000.7:c.58A=	ENSP00000303500.2:p.Ile20=
ENST00000546844.1:c.73A=	ENSP00000446658.1:p.Ile25=
ENST00000548677.2:n.160A=
ENST00000549111.5:n.169A=
ENST00000550978.6:c.57A=
ENST00000551337.5:c.73A=	ENSP00000447620.1:p.Ile25=
ENST00000551988.5:n.162A=
ENST00000553106.5:c.73A=	ENSP00000448059.1:p.Ile25=
ENST00000635500.1:n.41A=
NM_000277.1:c.73A=	NP_000268.1:p.Ile25=
XM_011538422.1:c.73A=	XP_011536724.1:p.Ile25=
NM_000277.2:c.73A=	NP_000268.1:p.Ile25=
NM_001354304.1:c.73A=	NP_001341233.1:p.Ile25=
XM_017019370.2:c.73A=	XP_016874859.1:p.Ile25=
NM_000277.3:c.73A= MANE Select	NP_000268.1:p.Ile25=
NM_001354304.2:c.73A=	NP_001341233.1:p.Ile25=