Canonical Allele Identifier: CA2059449135

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102893177T= , CM000674.2:g.102893177T=	GRCh38
NC_000012.11:g.103286955T= , CM000674.1:g.103286955T=	GRCh37
NC_000012.10:g.101811085T=	NCBI36
NG_008690.1:g.29426A=
NG_008690.2:g.70234A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.352+1558A= MANE Select	ENSP00000448059.1:n.352+1558A=
ENST00000307000.7:c.337+1558A=	ENSP00000303500.2:n.337+1558A=
ENST00000548928.1:n.274+1558A=
ENST00000549111.5:n.448+1558A=
ENST00000550978.6:c.336+1558A=
ENST00000551337.5:c.352+1558A=	ENSP00000447620.1:n.352+1558A=
ENST00000551988.5:n.441+1558A=
ENST00000553106.5:c.352+1558A=	ENSP00000448059.1:n.352+1558A=
NM_000277.1:c.352+1558A=	NP_000268.1:n.352+1558A=
XM_011538422.1:c.352+1558A=	XP_011536724.1:n.352+1558A=
NM_000277.2:c.352+1558A=	NP_000268.1:n.352+1558A=
NM_001354304.1:c.352+1558A=	NP_001341233.1:n.352+1558A=
XM_017019370.2:c.352+1558A=	XP_016874859.1:n.352+1558A=
NM_000277.3:c.352+1558A= MANE Select	NP_000268.1:n.352+1558A=
NM_001354304.2:c.352+1558A=	NP_001341233.1:n.352+1558A=