Canonical Allele Identifier: CA2059444534

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851720C= , CM000674.2:g.102851720C=	GRCh38
NC_000012.11:g.103245498C= , CM000674.1:g.103245498C=	GRCh37
NC_000012.10:g.101769628C=	NCBI36
NG_008690.1:g.70883G=
NG_008690.2:g.111691G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.879G= MANE Select	ENSP00000448059.1:p.Leu293=
ENST00000307000.7:c.864G=	ENSP00000303500.2:p.Leu288=
ENST00000549247.6:n.638G=
ENST00000551114.2:n.541G=
ENST00000553106.5:c.879G=	ENSP00000448059.1:p.Leu293=
ENST00000635477.1:c.40G=
NM_000277.1:c.879G=	NP_000268.1:p.Leu293=
XM_011538422.1:c.879G=	XP_011536724.1:p.Leu293=
NM_000277.2:c.879G=	NP_000268.1:p.Leu293=
NM_001354304.1:c.879G=	NP_001341233.1:p.Leu293=
NM_000277.3:c.879G= MANE Select	NP_000268.1:p.Leu293=
NM_001354304.2:c.879G=	NP_001341233.1:p.Leu293=