Canonical Allele Identifier: CA2059476304

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917354C= , CM000674.2:g.102917354C=	GRCh38
NC_000012.11:g.103311132C= , CM000674.1:g.103311132C=	GRCh37
NC_000012.10:g.101835262C=	NCBI36
NG_008690.1:g.5250G=
NG_008690.2:g.46057G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-129G=
ENST00000546844.1:c.-95-129G=	ENSP00000446658.1:n.-95-129G=
ENST00000547319.1:n.217-129G=
ENST00000551337.5:c.-95-129G=	ENSP00000447620.1:n.-95-129G=
ENST00000553106.5:c.-224G=	ENSP00000448059.1:n.-224G=
ENST00000635500.1:n.29-4456G=
NM_000277.1:c.-223G=	NP_000268.1:n.-223G=
NM_000277.2:c.-224G=	NP_000268.1:n.-224G=
NM_001354304.1:c.-95-129G=	NP_001341233.1:n.-95-129G=
NM_001354304.2:c.-95-129G=	NP_001341233.1:n.-95-129G=