Canonical Allele Identifier: CA2059476212

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917198A= , CM000674.2:g.102917198A=	GRCh38
NC_000012.11:g.103310976A= , CM000674.1:g.103310976A=	GRCh37
NC_000012.10:g.101835106A=	NCBI36
NG_008690.1:g.5405T=
NG_008690.2:g.46213T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.-68T= MANE Select	ENSP00000448059.1:n.-68T=
ENST00000307000.7:c.-215T=	ENSP00000303500.2:n.-215T=
ENST00000546708.5:n.520T=
ENST00000546844.1:c.-68T=	ENSP00000446658.1:n.-68T=
ENST00000547319.1:n.244T=
ENST00000549111.5:n.29T=
ENST00000551337.5:c.-68T=	ENSP00000447620.1:n.-68T=
ENST00000551988.5:n.22T=
ENST00000553106.5:c.-68T=	ENSP00000448059.1:n.-68T=
ENST00000635500.1:n.29-4300T=
NM_000277.1:c.-68T=	NP_000268.1:n.-68T=
XM_011538422.1:c.-68T=	XP_011536724.1:n.-68T=
NM_000277.2:c.-68T=	NP_000268.1:n.-68T=
NM_001354304.1:c.-68T=	NP_001341233.1:n.-68T=
XM_017019370.2:c.-68T=	XP_016874859.1:n.-68T=
NM_000277.3:c.-68T= MANE Select	NP_000268.1:n.-68T=
NM_001354304.2:c.-68T=	NP_001341233.1:n.-68T=