Canonical Allele Identifier: CA2059443357

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851040T= , CM000674.2:g.102851040T=	GRCh38
NC_000012.11:g.103244818T= , CM000674.1:g.103244818T=	GRCh37
NC_000012.10:g.101768948T=	NCBI36
NG_008690.1:g.71563A=
NG_008690.2:g.112371A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.912+647A= MANE Select	ENSP00000448059.1:n.912+647A=
ENST00000307000.7:c.897+647A=	ENSP00000303500.2:n.897+647A=
ENST00000549247.6:n.671+647A=
ENST00000551114.2:n.574+647A=
ENST00000553106.5:c.912+647A=	ENSP00000448059.1:n.912+647A=
ENST00000635477.1:c.73+647A=
NM_000277.1:c.912+647A=	NP_000268.1:n.912+647A=
XM_011538422.1:c.912+647A=	XP_011536724.1:n.912+647A=
NM_000277.2:c.912+647A=	NP_000268.1:n.912+647A=
NM_001354304.1:c.912+647A=	NP_001341233.1:n.912+647A=
NM_000277.3:c.912+647A= MANE Select	NP_000268.1:n.912+647A=
NM_001354304.2:c.912+647A=	NP_001341233.1:n.912+647A=