Canonical Allele Identifier: CA2059448507

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844418G= , CM000674.2:g.102844418G=	GRCh38
NC_000012.11:g.103238196G= , CM000674.1:g.103238196G=	GRCh37
NC_000012.10:g.101762326G=	NCBI36
NG_008690.1:g.78185C=
NG_008690.2:g.118993C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.983C= MANE Select	ENSP00000448059.1:p.Thr328=
ENST00000307000.7:c.968C=	ENSP00000303500.2:p.Thr323=
ENST00000549247.6:n.742C=
ENST00000551114.2:n.645C=
ENST00000553106.5:c.983C=	ENSP00000448059.1:p.Thr328=
ENST00000635477.1:c.87C=
ENST00000635528.1:n.498C=
NM_000277.1:c.983C=	NP_000268.1:p.Thr328=
XM_011538422.1:c.926C=	XP_011536724.1:p.Thr309=
NM_000277.2:c.983C=	NP_000268.1:p.Thr328=
NM_001354304.1:c.983C=	NP_001341233.1:p.Thr328=
NM_000277.3:c.983C= MANE Select	NP_000268.1:p.Thr328=
NM_001354304.2:c.983C=	NP_001341233.1:p.Thr328=