Canonical Allele Identifier: CA2059476301

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917348A= , CM000674.2:g.102917348A=	GRCh38
NC_000012.11:g.103311126A= , CM000674.1:g.103311126A=	GRCh37
NC_000012.10:g.101835256A=	NCBI36
NG_008690.1:g.5256T=
NG_008690.2:g.46063T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-123T=
ENST00000546844.1:c.-95-123T=	ENSP00000446658.1:n.-95-123T=
ENST00000547319.1:n.217-123T=
ENST00000551337.5:c.-95-123T=	ENSP00000447620.1:n.-95-123T=
ENST00000553106.5:c.-218T=	ENSP00000448059.1:n.-218T=
ENST00000635500.1:n.29-4450T=
NM_000277.1:c.-217T=	NP_000268.1:n.-217T=
NM_000277.2:c.-218T=	NP_000268.1:n.-218T=
NM_001354304.1:c.-95-123T=	NP_001341233.1:n.-95-123T=
NM_001354304.2:c.-95-123T=	NP_001341233.1:n.-95-123T=