Canonical Allele Identifier: CA2059448331

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844379T= , CM000674.2:g.102844379T=	GRCh38
NC_000012.11:g.103238157T= , CM000674.1:g.103238157T=	GRCh37
NC_000012.10:g.101762287T=	NCBI36
NG_008690.1:g.78224A=
NG_008690.2:g.119032A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1022A= MANE Select	ENSP00000448059.1:p.Lys341=
ENST00000307000.7:c.1007A=	ENSP00000303500.2:p.Lys336=
ENST00000549247.6:n.781A=
ENST00000551114.2:n.684A=
ENST00000553106.5:c.1022A=	ENSP00000448059.1:p.Lys341=
ENST00000635477.1:c.126A=
ENST00000635528.1:n.537A=
NM_000277.1:c.1022A=	NP_000268.1:p.Lys341=
XM_011538422.1:c.965A=	XP_011536724.1:p.Lys322=
NM_000277.2:c.1022A=	NP_000268.1:p.Lys341=
NM_001354304.1:c.1022A=	NP_001341233.1:p.Lys341=
NM_000277.3:c.1022A= MANE Select	NP_000268.1:p.Lys341=
NM_001354304.2:c.1022A=	NP_001341233.1:p.Lys341=