Canonical Allele Identifier: CA2059446411

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843670A= , CM000674.2:g.102843670A=	GRCh38
NC_000012.11:g.103237448A= , CM000674.1:g.103237448A=	GRCh37
NC_000012.10:g.101761578A=	NCBI36
NG_008690.1:g.78933T=
NG_008690.2:g.119741T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1175T= MANE Select	ENSP00000448059.1:p.Phe392=
ENST00000307000.7:c.1160T=	ENSP00000303500.2:p.Phe387=
ENST00000549247.6:n.934T=
ENST00000551114.2:n.837T=
ENST00000553106.5:c.1175T=	ENSP00000448059.1:p.Phe392=
ENST00000635477.1:c.279T=
ENST00000635528.1:n.690T=
NM_000277.1:c.1175T=	NP_000268.1:p.Phe392=
XM_011538422.1:c.1118T=	XP_011536724.1:p.Phe373=
NM_000277.2:c.1175T=	NP_000268.1:p.Phe392=
NM_001354304.1:c.1175T=	NP_001341233.1:p.Phe392=
NM_000277.3:c.1175T= MANE Select	NP_000268.1:p.Phe392=
NM_001354304.2:c.1175T=	NP_001341233.1:p.Phe392=