Canonical Allele Identifier: CA2059441846

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840478G= , CM000674.2:g.102840478G=	GRCh38
NC_000012.11:g.103234256G= , CM000674.1:g.103234256G=	GRCh37
NC_000012.10:g.101758386G=	NCBI36
NG_008690.1:g.82125C=
NG_008690.2:g.122933C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1237C= MANE Select	ENSP00000448059.1:p.Arg413=
ENST00000307000.7:c.1222C=	ENSP00000303500.2:p.Arg408=
ENST00000551114.2:n.899C=
ENST00000553106.5:c.1237C=	ENSP00000448059.1:p.Arg413=
ENST00000635477.1:c.341C=
ENST00000635528.1:n.752C=
NM_000277.1:c.1237C=	NP_000268.1:p.Arg413=
XM_011538422.1:c.1180C=	XP_011536724.1:p.Arg394=
NM_000277.2:c.1237C=	NP_000268.1:p.Arg413=
NM_001354304.1:c.1237C=	NP_001341233.1:p.Arg413=
NM_000277.3:c.1237C= MANE Select	NP_000268.1:p.Arg413=
NM_001354304.2:c.1237C=	NP_001341233.1:p.Arg413=