Canonical Allele Identifier: CA2059462552

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877656G= , CM000674.2:g.102877656G=	GRCh38
NC_000012.11:g.103271434G= , CM000674.1:g.103271434G=	GRCh37
NC_000012.10:g.101795564G=	NCBI36
NG_008690.1:g.44947C=
NG_008690.2:g.85755C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.353-106C= MANE Select	ENSP00000448059.1:n.353-106C=
ENST00000307000.7:c.338-106C=	ENSP00000303500.2:n.338-106C=
ENST00000549111.5:n.449-106C=
ENST00000550978.6:c.337-106C=
ENST00000551337.5:c.353-106C=	ENSP00000447620.1:n.353-106C=
ENST00000551988.5:n.442-106C=
ENST00000553106.5:c.353-106C=	ENSP00000448059.1:n.353-106C=
NM_000277.1:c.353-106C=	NP_000268.1:n.353-106C=
XM_011538422.1:c.353-106C=	XP_011536724.1:n.353-106C=
NM_000277.2:c.353-106C=	NP_000268.1:n.353-106C=
NM_001354304.1:c.353-106C=	NP_001341233.1:n.353-106C=
XM_017019370.2:c.353-106C=	XP_016874859.1:n.353-106C=
NM_000277.3:c.353-106C= MANE Select	NP_000268.1:n.353-106C=
NM_001354304.2:c.353-106C=	NP_001341233.1:n.353-106C=