Canonical Allele Identifier: CA2059430872

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102839194G= , CM000674.2:g.102839194G=	GRCh38
NC_000012.11:g.103232972G= , CM000674.1:g.103232972G=	GRCh37
NC_000012.10:g.101757102G=	NCBI36
NG_008690.1:g.83409C=
NG_008690.2:g.124217C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.1340C= MANE Select	NP_000268.1:p.Ala447=
ENST00000553106.6:c.1340C= MANE Select	ENSP00000448059.1:p.Ala447=
NM_000277.1:c.1340C=	NP_000268.1:p.Ala447=
NM_000277.2:c.1340C=	NP_000268.1:p.Ala447=
NM_001354304.1:c.1340C=	NP_001341233.1:p.Ala447=
NM_001354304.2:c.1340C=	NP_001341233.1:p.Ala447=
ENST00000307000.7:c.1325C=	ENSP00000303500.2:p.Ala442=
ENST00000551114.2:n.1002C=
ENST00000553106.5:c.1340C=	ENSP00000448059.1:p.Ala447=
ENST00000635528.1:n.855C=
XM_011538422.1:c.1283C=	XP_011536724.1:p.Ala428=