Canonical Allele Identifier: CA2059448448

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844406C= , CM000674.2:g.102844406C=	GRCh38
NC_000012.11:g.103238184C= , CM000674.1:g.103238184C=	GRCh37
NC_000012.10:g.101762314C=	NCBI36
NG_008690.1:g.78197G=
NG_008690.2:g.119005G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.995G= MANE Select	ENSP00000448059.1:p.Gly332=
ENST00000307000.7:c.980G=	ENSP00000303500.2:p.Gly327=
ENST00000549247.6:n.754G=
ENST00000551114.2:n.657G=
ENST00000553106.5:c.995G=	ENSP00000448059.1:p.Gly332=
ENST00000635477.1:c.99G=
ENST00000635528.1:n.510G=
NM_000277.1:c.995G=	NP_000268.1:p.Gly332=
XM_011538422.1:c.938G=	XP_011536724.1:p.Gly313=
NM_000277.2:c.995G=	NP_000268.1:p.Gly332=
NM_001354304.1:c.995G=	NP_001341233.1:p.Gly332=
NM_000277.3:c.995G= MANE Select	NP_000268.1:p.Gly332=
NM_001354304.2:c.995G=	NP_001341233.1:p.Gly332=