Canonical Allele Identifier: CA2059448320

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844378C= , CM000674.2:g.102844378C=	GRCh38
NC_000012.11:g.103238156C= , CM000674.1:g.103238156C=	GRCh37
NC_000012.10:g.101762286C=	NCBI36
NG_008690.1:g.78225G=
NG_008690.2:g.119033G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1023G= MANE Select	ENSP00000448059.1:p.Lys341=
ENST00000307000.7:c.1008G=	ENSP00000303500.2:p.Lys336=
ENST00000549247.6:n.782G=
ENST00000551114.2:n.685G=
ENST00000553106.5:c.1023G=	ENSP00000448059.1:p.Lys341=
ENST00000635477.1:c.127G=
ENST00000635528.1:n.538G=
NM_000277.1:c.1023G=	NP_000268.1:p.Lys341=
XM_011538422.1:c.966G=	XP_011536724.1:p.Lys322=
NM_000277.2:c.1023G=	NP_000268.1:p.Lys341=
NM_001354304.1:c.1023G=	NP_001341233.1:p.Lys341=
NM_000277.3:c.1023G= MANE Select	NP_000268.1:p.Lys341=
NM_001354304.2:c.1023G=	NP_001341233.1:p.Lys341=