Canonical Allele Identifier: CA2059441654

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840456C= , CM000674.2:g.102840456C=	GRCh38
NC_000012.11:g.103234234C= , CM000674.1:g.103234234C=	GRCh37
NC_000012.10:g.101758364C=	NCBI36
NG_008690.1:g.82147G=
NG_008690.2:g.122955G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1259G= MANE Select	ENSP00000448059.1:p.Arg420=
ENST00000307000.7:c.1244G=	ENSP00000303500.2:p.Arg415=
ENST00000551114.2:n.921G=
ENST00000553106.5:c.1259G=	ENSP00000448059.1:p.Arg420=
ENST00000635477.1:c.363G=
ENST00000635528.1:n.774G=
NM_000277.1:c.1259G=	NP_000268.1:p.Arg420=
XM_011538422.1:c.1202G=	XP_011536724.1:p.Arg401=
NM_000277.2:c.1259G=	NP_000268.1:p.Arg420=
NM_001354304.1:c.1259G=	NP_001341233.1:p.Arg420=
NM_000277.3:c.1259G= MANE Select	NP_000268.1:p.Arg420=
NM_001354304.2:c.1259G=	NP_001341233.1:p.Arg420=