Canonical Allele Identifier: CA2059441944

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840493G= , CM000674.2:g.102840493G=	GRCh38
NC_000012.11:g.103234271G= , CM000674.1:g.103234271G=	GRCh37
NC_000012.10:g.101758401G=	NCBI36
NG_008690.1:g.82110C=
NG_008690.2:g.122918C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1222C= MANE Select	ENSP00000448059.1:p.Arg408=
ENST00000307000.7:c.1207C=	ENSP00000303500.2:p.Arg403=
ENST00000551114.2:n.884C=
ENST00000553106.5:c.1222C=	ENSP00000448059.1:p.Arg408=
ENST00000635477.1:c.326C=
ENST00000635528.1:n.737C=
NM_000277.1:c.1222C=	NP_000268.1:p.Arg408=
XM_011538422.1:c.1165C=	XP_011536724.1:p.Arg389=
NM_000277.2:c.1222C=	NP_000268.1:p.Arg408=
NM_001354304.1:c.1222C=	NP_001341233.1:p.Arg408=
NM_000277.3:c.1222C= MANE Select	NP_000268.1:p.Arg408=
NM_001354304.2:c.1222C=	NP_001341233.1:p.Arg408=