Canonical Allele Identifier: CA2059476205

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917180G= , CM000674.2:g.102917180G=	GRCh38
NC_000012.11:g.103310958G= , CM000674.1:g.103310958G=	GRCh37
NC_000012.10:g.101835088G=	NCBI36
NG_008690.1:g.5423C=
NG_008690.2:g.46231C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.-50C= MANE Select	ENSP00000448059.1:n.-50C=
ENST00000307000.7:c.-197C=	ENSP00000303500.2:n.-197C=
ENST00000546708.5:n.538C=
ENST00000546844.1:c.-50C=	ENSP00000446658.1:n.-50C=
ENST00000547319.1:n.262C=
ENST00000549111.5:n.47C=
ENST00000551337.5:c.-50C=	ENSP00000447620.1:n.-50C=
ENST00000551988.5:n.40C=
ENST00000553106.5:c.-50C=	ENSP00000448059.1:n.-50C=
ENST00000635500.1:n.29-4282C=
NM_000277.1:c.-50C=	NP_000268.1:n.-50C=
XM_011538422.1:c.-50C=	XP_011536724.1:n.-50C=
NM_000277.2:c.-50C=	NP_000268.1:n.-50C=
NM_001354304.1:c.-50C=	NP_001341233.1:n.-50C=
XM_017019370.2:c.-50C=	XP_016874859.1:n.-50C=
NM_000277.3:c.-50C= MANE Select	NP_000268.1:n.-50C=
NM_001354304.2:c.-50C=	NP_001341233.1:n.-50C=