Canonical Allele Identifier: CA2059448359

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844382A= , CM000674.2:g.102844382A=	GRCh38
NC_000012.11:g.103238160A= , CM000674.1:g.103238160A=	GRCh37
NC_000012.10:g.101762290A=	NCBI36
NG_008690.1:g.78221T=
NG_008690.2:g.119029T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1019T= MANE Select	ENSP00000448059.1:p.Ile340=
ENST00000307000.7:c.1004T=	ENSP00000303500.2:p.Ile335=
ENST00000549247.6:n.778T=
ENST00000551114.2:n.681T=
ENST00000553106.5:c.1019T=	ENSP00000448059.1:p.Ile340=
ENST00000635477.1:c.123T=
ENST00000635528.1:n.534T=
NM_000277.1:c.1019T=	NP_000268.1:p.Ile340=
XM_011538422.1:c.962T=	XP_011536724.1:p.Ile321=
NM_000277.2:c.1019T=	NP_000268.1:p.Ile340=
NM_001354304.1:c.1019T=	NP_001341233.1:p.Ile340=
NM_000277.3:c.1019T= MANE Select	NP_000268.1:p.Ile340=
NM_001354304.2:c.1019T=	NP_001341233.1:p.Ile340=