Canonical Allele Identifier: CA2059462472

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877484G= , CM000674.2:g.102877484G=	GRCh38
NC_000012.11:g.103271262G= , CM000674.1:g.103271262G=	GRCh37
NC_000012.10:g.101795392G=	NCBI36
NG_008690.1:g.45119C=
NG_008690.2:g.85927C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.419C= MANE Select	ENSP00000448059.1:p.Ala140=
ENST00000307000.7:c.404C=	ENSP00000303500.2:p.Ala135=
ENST00000549111.5:n.515C=
ENST00000550978.6:c.403C=
ENST00000551988.5:n.508C=
ENST00000553106.5:c.419C=	ENSP00000448059.1:p.Ala140=
NM_000277.1:c.419C=	NP_000268.1:p.Ala140=
XM_011538422.1:c.419C=	XP_011536724.1:p.Ala140=
NM_000277.2:c.419C=	NP_000268.1:p.Ala140=
NM_001354304.1:c.419C=	NP_001341233.1:p.Ala140=
XM_017019370.2:c.419C=	XP_016874859.1:p.Ala140=
NM_000277.3:c.419C= MANE Select	NP_000268.1:p.Ala140=
NM_001354304.2:c.419C=	NP_001341233.1:p.Ala140=