Canonical Allele Identifier: CA2059466640

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894782A= , CM000674.2:g.102894782A=	GRCh38
NC_000012.11:g.103288560A= , CM000674.1:g.103288560A=	GRCh37
NC_000012.10:g.101812690A=	NCBI36
NG_008690.1:g.27821T=
NG_008690.2:g.68629T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.305T= MANE Select	ENSP00000448059.1:p.Ile102=
ENST00000307000.7:c.290T=	ENSP00000303500.2:p.Ile97=
ENST00000546844.1:c.305T=	ENSP00000446658.1:p.Ile102=
ENST00000548928.1:n.227T=
ENST00000549111.5:n.401T=
ENST00000550978.6:c.289T=
ENST00000551337.5:c.305T=	ENSP00000447620.1:p.Ile102=
ENST00000551988.5:n.394T=
ENST00000553106.5:c.305T=	ENSP00000448059.1:p.Ile102=
NM_000277.1:c.305T=	NP_000268.1:p.Ile102=
XM_011538422.1:c.305T=	XP_011536724.1:p.Ile102=
NM_000277.2:c.305T=	NP_000268.1:p.Ile102=
NM_001354304.1:c.305T=	NP_001341233.1:p.Ile102=
XM_017019370.2:c.305T=	XP_016874859.1:p.Ile102=
NM_000277.3:c.305T= MANE Select	NP_000268.1:p.Ile102=
NM_001354304.2:c.305T=	NP_001341233.1:p.Ile102=