Canonical Allele Identifier: CA2059442116

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102886978G= , CM000674.2:g.102886978G=	GRCh38
NC_000012.11:g.103280756G= , CM000674.1:g.103280756G=	GRCh37
NC_000012.10:g.101804886G=	NCBI36
NG_008690.1:g.35625C=
NG_008690.2:g.76433C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.352+7757C= MANE Select	NP_000268.1:n.352+7757C=
ENST00000553106.6:c.352+7757C= MANE Select	ENSP00000448059.1:n.352+7757C=
NM_000277.1:c.352+7757C=	NP_000268.1:n.352+7757C=
NM_000277.2:c.352+7757C=	NP_000268.1:n.352+7757C=
NM_001354304.1:c.352+7757C=	NP_001341233.1:n.352+7757C=
NM_001354304.2:c.352+7757C=	NP_001341233.1:n.352+7757C=
ENST00000307000.7:c.337+7757C=	ENSP00000303500.2:n.337+7757C=
ENST00000548928.1:n.275-736C=
ENST00000549111.5:n.448+7757C=
ENST00000550978.6:c.336+7757C=
ENST00000551337.5:c.352+7757C=	ENSP00000447620.1:n.352+7757C=
ENST00000551988.5:n.441+7757C=
ENST00000553106.5:c.352+7757C=	ENSP00000448059.1:n.352+7757C=
XM_011538422.1:c.352+7757C=	XP_011536724.1:n.352+7757C=
XM_017019370.2:c.352+7757C=	XP_016874859.1:n.352+7757C=