Canonical Allele Identifier: CA913187351

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844355_102844356delinsCG , CM000674.2:g.102844355_102844356delinsCG	GRCh38
NC_000012.11:g.103238133_103238134delinsCG , CM000674.1:g.103238133_103238134delinsCG	GRCh37
NC_000012.10:g.101762263_101762264delinsCG	NCBI36
NG_008690.1:g.78247_78248delinsCG
NG_008690.2:g.119055_119056delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1045_1046delinsCG MANE Select	ENSP00000448059.1:p.Ser349Arg
ENST00000307000.7:c.1030_1031delinsCG	ENSP00000303500.2:p.Ser344Arg
ENST00000549247.6:n.804_805delinsCG
ENST00000551114.2:n.707_708delinsCG
ENST00000553106.5:c.1045_1046delinsCG	ENSP00000448059.1:p.Ser349Arg
ENST00000635477.1:c.149_150delinsCG
ENST00000635528.1:n.560_561delinsCG
NM_000277.1:c.1045_1046delinsCG	NP_000268.1:p.Ser349Arg
XM_011538422.1:c.988_989delinsCG	XP_011536724.1:p.Ser330Arg
NM_000277.2:c.1045_1046delinsCG	NP_000268.1:p.Ser349Arg
NM_001354304.1:c.1045_1046delinsCG	NP_001341233.1:p.Ser349Arg
NM_000277.3:c.1045_1046delinsCG MANE Select	NP_000268.1:p.Ser349Arg
NM_001354304.2:c.1045_1046delinsCG	NP_001341233.1:p.Ser349Arg