Canonical Allele Identifier: CA2059448493

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844415A= , CM000674.2:g.102844415A=	GRCh38
NC_000012.11:g.103238193A= , CM000674.1:g.103238193A=	GRCh37
NC_000012.10:g.101762323A=	NCBI36
NG_008690.1:g.78188T=
NG_008690.2:g.118996T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.986T= MANE Select	ENSP00000448059.1:p.Val329=
ENST00000307000.7:c.971T=	ENSP00000303500.2:p.Val324=
ENST00000549247.6:n.745T=
ENST00000551114.2:n.648T=
ENST00000553106.5:c.986T=	ENSP00000448059.1:p.Val329=
ENST00000635477.1:c.90T=
ENST00000635528.1:n.501T=
NM_000277.1:c.986T=	NP_000268.1:p.Val329=
XM_011538422.1:c.929T=	XP_011536724.1:p.Val310=
NM_000277.2:c.986T=	NP_000268.1:p.Val329=
NM_001354304.1:c.986T=	NP_001341233.1:p.Val329=
NM_000277.3:c.986T= MANE Select	NP_000268.1:p.Val329=
NM_001354304.2:c.986T=	NP_001341233.1:p.Val329=