Canonical Allele Identifier: CA2059449067

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855148G= , CM000674.2:g.102855148G=	GRCh38
NC_000012.11:g.103248926G= , CM000674.1:g.103248926G=	GRCh37
NC_000012.10:g.101773056G=	NCBI36
NG_008690.1:g.67455C=
NG_008690.2:g.108263C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.694C= MANE Select	ENSP00000448059.1:p.Gln232=
ENST00000307000.7:c.679C=	ENSP00000303500.2:p.Gln227=
ENST00000549111.5:n.790C=
ENST00000553106.5:c.694C=	ENSP00000448059.1:p.Gln232=
NM_000277.1:c.694C=	NP_000268.1:p.Gln232=
XM_011538422.1:c.694C=	XP_011536724.1:p.Gln232=
NM_000277.2:c.694C=	NP_000268.1:p.Gln232=
NM_001354304.1:c.694C=	NP_001341233.1:p.Gln232=
XM_017019370.2:c.694C=	XP_016874859.1:p.Gln232=
NM_000277.3:c.694C= MANE Select	NP_000268.1:p.Gln232=
NM_001354304.2:c.694C=	NP_001341233.1:p.Gln232=