Canonical Allele Identifier: CA2059446288

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843646C= , CM000674.2:g.102843646C=	GRCh38
NC_000012.11:g.103237424C= , CM000674.1:g.103237424C=	GRCh37
NC_000012.10:g.101761554C=	NCBI36
NG_008690.1:g.78957G=
NG_008690.2:g.119765G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1199G= MANE Select	ENSP00000448059.1:p.Arg400=
ENST00000307000.7:c.1184G=	ENSP00000303500.2:p.Arg395=
ENST00000549247.6:n.958G=
ENST00000551114.2:n.861G=
ENST00000553106.5:c.1199G=	ENSP00000448059.1:p.Arg400=
ENST00000635477.1:c.303G=
ENST00000635528.1:n.714G=
NM_000277.1:c.1199G=	NP_000268.1:p.Arg400=
XM_011538422.1:c.1142G=	XP_011536724.1:p.Arg381=
NM_000277.2:c.1199G=	NP_000268.1:p.Arg400=
NM_001354304.1:c.1199G=	NP_001341233.1:p.Arg400=
NM_000277.3:c.1199G= MANE Select	NP_000268.1:p.Arg400=
NM_001354304.2:c.1199G=	NP_001341233.1:p.Arg400=