Canonical Allele Identifier: CA2059476175

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917116G= , CM000674.2:g.102917116G=	GRCh38
NC_000012.11:g.103310894G= , CM000674.1:g.103310894G=	GRCh37
NC_000012.10:g.101835024G=	NCBI36
NG_008690.1:g.5487C=
NG_008690.2:g.46295C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.15C= MANE Select	ENSP00000448059.1:p.Val5=
ENST00000307000.7:c.-133C=	ENSP00000303500.2:n.-133C=
ENST00000546844.1:c.15C=	ENSP00000446658.1:p.Val5=
ENST00000547319.1:n.326C=
ENST00000549111.5:n.111C=
ENST00000551337.5:c.15C=	ENSP00000447620.1:p.Val5=
ENST00000551988.5:n.104C=
ENST00000553106.5:c.15C=	ENSP00000448059.1:p.Val5=
ENST00000635500.1:n.29-4218C=
NM_000277.1:c.15C=	NP_000268.1:p.Val5=
XM_011538422.1:c.15C=	XP_011536724.1:p.Val5=
NM_000277.2:c.15C=	NP_000268.1:p.Val5=
NM_001354304.1:c.15C=	NP_001341233.1:p.Val5=
XM_017019370.2:c.15C=	XP_016874859.1:p.Val5=
NM_000277.3:c.15C= MANE Select	NP_000268.1:p.Val5=
NM_001354304.2:c.15C=	NP_001341233.1:p.Val5=