Canonical Allele Identifier: CA3191687975

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844345A= , CM000674.2:g.102844345A=	GRCh38
NC_000012.11:g.103238123A= , CM000674.1:g.103238123A=	GRCh37
NC_000012.10:g.101762253A=	NCBI36
NG_008690.1:g.78258T=
NG_008690.2:g.119066T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.1056T= MANE Select	NP_000268.1:p.Gly352=
ENST00000553106.6:c.1056T= MANE Select	ENSP00000448059.1:p.Gly352=
NM_000277.1:c.1056T=	NP_000268.1:p.Gly352=
NM_000277.2:c.1056T=	NP_000268.1:p.Gly352=
NM_001354304.1:c.1056T=	NP_001341233.1:p.Gly352=
NM_001354304.2:c.1056T=	NP_001341233.1:p.Gly352=
ENST00000307000.7:c.1041T=	ENSP00000303500.2:p.Gly347=
ENST00000549247.6:n.815T=
ENST00000551114.2:n.718T=
ENST00000553106.5:c.1056T=	ENSP00000448059.1:p.Gly352=
ENST00000635477.1:c.160T=
ENST00000635528.1:n.571T=
XM_011538422.1:c.999T=	XP_011536724.1:p.Gly333=