Canonical Allele Identifier: CA2059448774

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844534T= , CM000674.2:g.102844534T=	GRCh38
NC_000012.11:g.103238312T= , CM000674.1:g.103238312T=	GRCh37
NC_000012.10:g.101762442T=	NCBI36
NG_008690.1:g.78069A=
NG_008690.2:g.118877A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-103A= MANE Select	ENSP00000448059.1:n.970-103A=
ENST00000307000.7:c.955-103A=	ENSP00000303500.2:n.955-103A=
ENST00000549247.6:n.729-103A=
ENST00000551114.2:n.632-103A=
ENST00000553106.5:c.970-103A=	ENSP00000448059.1:n.970-103A=
ENST00000635477.1:c.74-103A=
ENST00000635528.1:n.485-103A=
NM_000277.1:c.970-103A=	NP_000268.1:n.970-103A=
XM_011538422.1:c.913-103A=	XP_011536724.1:n.913-103A=
NM_000277.2:c.970-103A=	NP_000268.1:n.970-103A=
NM_001354304.1:c.970-103A=	NP_001341233.1:n.970-103A=
NM_000277.3:c.970-103A= MANE Select	NP_000268.1:n.970-103A=
NM_001354304.2:c.970-103A=	NP_001341233.1:n.970-103A=