Canonical Allele Identifier: CA2059473344

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912816A= , CM000674.2:g.102912816A=	GRCh38
NC_000012.11:g.103306594A= , CM000674.1:g.103306594A=	GRCh37
NC_000012.10:g.101830724A=	NCBI36
NG_008690.1:g.9787T=
NG_008690.2:g.50595T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.143T= MANE Select	ENSP00000448059.1:p.Leu48=
ENST00000307000.7:c.128T=	ENSP00000303500.2:p.Leu43=
ENST00000546844.1:c.143T=	ENSP00000446658.1:p.Leu48=
ENST00000548677.2:n.230T=
ENST00000548928.1:n.65T=
ENST00000549111.5:n.239T=
ENST00000550978.6:c.127T=
ENST00000551337.5:c.143T=	ENSP00000447620.1:p.Leu48=
ENST00000551988.5:n.232T=
ENST00000553106.5:c.143T=	ENSP00000448059.1:p.Leu48=
ENST00000635500.1:n.111T=
NM_000277.1:c.143T=	NP_000268.1:p.Leu48=
XM_011538422.1:c.143T=	XP_011536724.1:p.Leu48=
NM_000277.2:c.143T=	NP_000268.1:p.Leu48=
NM_001354304.1:c.143T=	NP_001341233.1:p.Leu48=
XM_017019370.2:c.143T=	XP_016874859.1:p.Leu48=
NM_000277.3:c.143T= MANE Select	NP_000268.1:p.Leu48=
NM_001354304.2:c.143T=	NP_001341233.1:p.Leu48=