Canonical Allele Identifier: CA2059444750

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851776G= , CM000674.2:g.102851776G=	GRCh38
NC_000012.11:g.103245554G= , CM000674.1:g.103245554G=	GRCh37
NC_000012.10:g.101769684G=	NCBI36
NG_008690.1:g.70827C=
NG_008690.2:g.111635C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.843-20C= MANE Select	ENSP00000448059.1:n.843-20C=
ENST00000307000.7:c.828-20C=	ENSP00000303500.2:n.828-20C=
ENST00000549247.6:n.602-20C=
ENST00000551114.2:n.485C=
ENST00000553106.5:c.843-20C=	ENSP00000448059.1:n.843-20C=
ENST00000635477.1:c.4-20C=
NM_000277.1:c.843-20C=	NP_000268.1:n.843-20C=
XM_011538422.1:c.843-20C=	XP_011536724.1:n.843-20C=
NM_000277.2:c.843-20C=	NP_000268.1:n.843-20C=
NM_001354304.1:c.843-20C=	NP_001341233.1:n.843-20C=
NM_000277.3:c.843-20C= MANE Select	NP_000268.1:n.843-20C=
NM_001354304.2:c.843-20C=	NP_001341233.1:n.843-20C=