Canonical Allele Identifier: CA2059476090

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102916942T= , CM000674.2:g.102916942T=	GRCh38
NC_000012.11:g.103310720T= , CM000674.1:g.103310720T=	GRCh37
NC_000012.10:g.101834850T=	NCBI36
NG_008690.1:g.5661A=
NG_008690.2:g.46469A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.60+129A= MANE Select	ENSP00000448059.1:n.60+129A=
ENST00000307000.7:c.-88+129A=	ENSP00000303500.2:n.-88+129A=
ENST00000546844.1:c.60+129A=	ENSP00000446658.1:n.60+129A=
ENST00000547319.1:n.371+129A=
ENST00000549111.5:n.156+129A=
ENST00000550978.6:c.44+129A=
ENST00000551337.5:c.60+129A=	ENSP00000447620.1:n.60+129A=
ENST00000551988.5:n.149+129A=
ENST00000553106.5:c.60+129A=	ENSP00000448059.1:n.60+129A=
ENST00000635500.1:n.29-4044A=
NM_000277.1:c.60+129A=	NP_000268.1:n.60+129A=
XM_011538422.1:c.60+129A=	XP_011536724.1:n.60+129A=
NM_000277.2:c.60+129A=	NP_000268.1:n.60+129A=
NM_001354304.1:c.60+129A=	NP_001341233.1:n.60+129A=
XM_017019370.2:c.60+129A=	XP_016874859.1:n.60+129A=
NM_000277.3:c.60+129A= MANE Select	NP_000268.1:n.60+129A=
NM_001354304.2:c.60+129A=	NP_001341233.1:n.60+129A=