Canonical Allele Identifier: CA2059443721

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851207A= , CM000674.2:g.102851207A=	GRCh38
NC_000012.11:g.103244985A= , CM000674.1:g.103244985A=	GRCh37
NC_000012.10:g.101769115A=	NCBI36
NG_008690.1:g.71396T=
NG_008690.2:g.112204T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.912+480T= MANE Select	ENSP00000448059.1:n.912+480T=
ENST00000307000.7:c.897+480T=	ENSP00000303500.2:n.897+480T=
ENST00000549247.6:n.671+480T=
ENST00000551114.2:n.574+480T=
ENST00000553106.5:c.912+480T=	ENSP00000448059.1:n.912+480T=
ENST00000635477.1:c.73+480T=
NM_000277.1:c.912+480T=	NP_000268.1:n.912+480T=
XM_011538422.1:c.912+480T=	XP_011536724.1:n.912+480T=
NM_000277.2:c.912+480T=	NP_000268.1:n.912+480T=
NM_001354304.1:c.912+480T=	NP_001341233.1:n.912+480T=
NM_000277.3:c.912+480T= MANE Select	NP_000268.1:n.912+480T=
NM_001354304.2:c.912+480T=	NP_001341233.1:n.912+480T=