Canonical Allele Identifier: CA2059442083

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840510A= , CM000674.2:g.102840510A=	GRCh38
NC_000012.11:g.103234288A= , CM000674.1:g.103234288A=	GRCh37
NC_000012.10:g.101758418A=	NCBI36
NG_008690.1:g.82093T=
NG_008690.2:g.122901T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1205T= MANE Select	ENSP00000448059.1:p.Phe402=
ENST00000307000.7:c.1190T=	ENSP00000303500.2:p.Phe397=
ENST00000551114.2:n.867T=
ENST00000553106.5:c.1205T=	ENSP00000448059.1:p.Phe402=
ENST00000635477.1:c.309T=
ENST00000635528.1:n.720T=
NM_000277.1:c.1205T=	NP_000268.1:p.Phe402=
XM_011538422.1:c.1148T=	XP_011536724.1:p.Phe383=
NM_000277.2:c.1205T=	NP_000268.1:p.Phe402=
NM_001354304.1:c.1205T=	NP_001341233.1:p.Phe402=
NM_000277.3:c.1205T= MANE Select	NP_000268.1:p.Phe402=
NM_001354304.2:c.1205T=	NP_001341233.1:p.Phe402=