Canonical Allele Identifier: CA2059448372

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844388T= , CM000674.2:g.102844388T=	GRCh38
NC_000012.11:g.103238166T= , CM000674.1:g.103238166T=	GRCh37
NC_000012.10:g.101762296T=	NCBI36
NG_008690.1:g.78215A=
NG_008690.2:g.119023A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1013A= MANE Select	ENSP00000448059.1:p.Asp338=
ENST00000307000.7:c.998A=	ENSP00000303500.2:p.Asp333=
ENST00000549247.6:n.772A=
ENST00000551114.2:n.675A=
ENST00000553106.5:c.1013A=	ENSP00000448059.1:p.Asp338=
ENST00000635477.1:c.117A=
ENST00000635528.1:n.528A=
NM_000277.1:c.1013A=	NP_000268.1:p.Asp338=
XM_011538422.1:c.956A=	XP_011536724.1:p.Asp319=
NM_000277.2:c.1013A=	NP_000268.1:p.Asp338=
NM_001354304.1:c.1013A=	NP_001341233.1:p.Asp338=
NM_000277.3:c.1013A= MANE Select	NP_000268.1:p.Asp338=
NM_001354304.2:c.1013A=	NP_001341233.1:p.Asp338=