Canonical Allele Identifier: CA2059476312

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917363G= , CM000674.2:g.102917363G=	GRCh38
NC_000012.11:g.103311141G= , CM000674.1:g.103311141G=	GRCh37
NC_000012.10:g.101835271G=	NCBI36
NG_008690.1:g.5241C=
NG_008690.2:g.46048C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-138C=
ENST00000546844.1:c.-95-138C=	ENSP00000446658.1:n.-95-138C=
ENST00000547319.1:n.217-138C=
ENST00000551337.5:c.-95-138C=	ENSP00000447620.1:n.-95-138C=
ENST00000553106.5:c.-233C=	ENSP00000448059.1:n.-233C=
ENST00000635500.1:n.29-4465C=
NM_000277.1:c.-232C=	NP_000268.1:n.-232C=
NM_000277.2:c.-233C=	NP_000268.1:n.-233C=
NM_001354304.1:c.-95-138C=	NP_001341233.1:n.-95-138C=
NM_001354304.2:c.-95-138C=	NP_001341233.1:n.-95-138C=