Canonical Allele Identifier: CA2059441716

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840465T= , CM000674.2:g.102840465T=	GRCh38
NC_000012.11:g.103234243T= , CM000674.1:g.103234243T=	GRCh37
NC_000012.10:g.101758373T=	NCBI36
NG_008690.1:g.82138A=
NG_008690.2:g.122946A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1250A= MANE Select	ENSP00000448059.1:p.Tyr417=
ENST00000307000.7:c.1235A=	ENSP00000303500.2:p.Tyr412=
ENST00000551114.2:n.912A=
ENST00000553106.5:c.1250A=	ENSP00000448059.1:p.Tyr417=
ENST00000635477.1:c.354A=
ENST00000635528.1:n.765A=
NM_000277.1:c.1250A=	NP_000268.1:p.Tyr417=
XM_011538422.1:c.1193A=	XP_011536724.1:p.Tyr398=
NM_000277.2:c.1250A=	NP_000268.1:p.Tyr417=
NM_001354304.1:c.1250A=	NP_001341233.1:p.Tyr417=
NM_000277.3:c.1250A= MANE Select	NP_000268.1:p.Tyr417=
NM_001354304.2:c.1250A=	NP_001341233.1:p.Tyr417=