Canonical Allele Identifier: CA2059444285

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851684T= , CM000674.2:g.102851684T=	GRCh38
NC_000012.11:g.103245462T= , CM000674.1:g.103245462T=	GRCh37
NC_000012.10:g.101769592T=	NCBI36
NG_008690.1:g.70919A=
NG_008690.2:g.111727A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.912+3A= MANE Select	NP_000268.1:n.912+3A=
ENST00000553106.6:c.912+3A= MANE Select	ENSP00000448059.1:n.912+3A=
NM_000277.1:c.912+3A=	NP_000268.1:n.912+3A=
NM_000277.2:c.912+3A=	NP_000268.1:n.912+3A=
NM_001354304.1:c.912+3A=	NP_001341233.1:n.912+3A=
NM_001354304.2:c.912+3A=	NP_001341233.1:n.912+3A=
ENST00000307000.7:c.897+3A=	ENSP00000303500.2:n.897+3A=
ENST00000549247.6:n.671+3A=
ENST00000551114.2:n.574+3A=
ENST00000553106.5:c.912+3A=	ENSP00000448059.1:n.912+3A=
ENST00000635477.1:c.73+3A=
XM_011538422.1:c.912+3A=	XP_011536724.1:n.912+3A=