Canonical Allele Identifier: CA2838199305

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843677dup , CM000674.2:g.102843677dup	GRCh38
NC_000012.11:g.103237455dup , CM000674.1:g.103237455dup	GRCh37
NC_000012.10:g.101761585dup	NCBI36
NG_008690.1:g.78926dup
NG_008690.2:g.119734dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1168dup MANE Select	ENSP00000448059.1:p.Glu390GlyfsTer4
ENST00000307000.7:c.1153dup	ENSP00000303500.2:p.Glu385GlyfsTer4
ENST00000549247.6:n.927dup
ENST00000551114.2:n.830dup
ENST00000553106.5:c.1168dup	ENSP00000448059.1:p.Glu390GlyfsTer4
ENST00000635477.1:c.272dup
ENST00000635528.1:n.683dup
NM_000277.1:c.1168dup	NP_000268.1:p.Glu390GlyfsTer4
XM_011538422.1:c.1111dup	XP_011536724.1:p.Glu371GlyfsTer4
NM_000277.2:c.1168dup	NP_000268.1:p.Glu390GlyfsTer4
NM_001354304.1:c.1168dup	NP_001341233.1:p.Glu390GlyfsTer4
NM_000277.3:c.1168dup MANE Select	NP_000268.1:p.Glu390GlyfsTer4
NM_001354304.2:c.1168dup	NP_001341233.1:p.Glu390GlyfsTer4