Canonical Allele Identifier: CA2059466651

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894785T= , CM000674.2:g.102894785T=	GRCh38
NC_000012.11:g.103288563T= , CM000674.1:g.103288563T=	GRCh37
NC_000012.10:g.101812693T=	NCBI36
NG_008690.1:g.27818A=
NG_008690.2:g.68626A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.302A= MANE Select	ENSP00000448059.1:p.Asp101=
ENST00000307000.7:c.287A=	ENSP00000303500.2:p.Asp96=
ENST00000546844.1:c.302A=	ENSP00000446658.1:p.Asp101=
ENST00000548928.1:n.224A=
ENST00000549111.5:n.398A=
ENST00000550978.6:c.286A=
ENST00000551337.5:c.302A=	ENSP00000447620.1:p.Asp101=
ENST00000551988.5:n.391A=
ENST00000553106.5:c.302A=	ENSP00000448059.1:p.Asp101=
NM_000277.1:c.302A=	NP_000268.1:p.Asp101=
XM_011538422.1:c.302A=	XP_011536724.1:p.Asp101=
NM_000277.2:c.302A=	NP_000268.1:p.Asp101=
NM_001354304.1:c.302A=	NP_001341233.1:p.Asp101=
XM_017019370.2:c.302A=	XP_016874859.1:p.Asp101=
NM_000277.3:c.302A= MANE Select	NP_000268.1:p.Asp101=
NM_001354304.2:c.302A=	NP_001341233.1:p.Asp101=