Canonical Allele Identifier: CA2059457022

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866670G= , CM000674.2:g.102866670G=	GRCh38
NC_000012.11:g.103260448G= , CM000674.1:g.103260448G=	GRCh37
NC_000012.10:g.101784578G=	NCBI36
NG_008690.1:g.55933C=
NG_008690.2:g.96741C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.442-7C= MANE Select	ENSP00000448059.1:n.442-7C=
ENST00000307000.7:c.427-7C=	ENSP00000303500.2:n.427-7C=
ENST00000549111.5:n.538-7C=
ENST00000551988.5:n.530+10792C=
ENST00000553106.5:c.442-7C=	ENSP00000448059.1:n.442-7C=
NM_000277.1:c.442-7C=	NP_000268.1:n.442-7C=
XM_011538422.1:c.442-7C=	XP_011536724.1:n.442-7C=
NM_000277.2:c.442-7C=	NP_000268.1:n.442-7C=
NM_001354304.1:c.442-7C=	NP_001341233.1:n.442-7C=
XM_017019370.2:c.442-7C=	XP_016874859.1:n.442-7C=
NM_000277.3:c.442-7C= MANE Select	NP_000268.1:n.442-7C=
NM_001354304.2:c.442-7C=	NP_001341233.1:n.442-7C=