Canonical Allele Identifier: CA2059446555

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843698G= , CM000674.2:g.102843698G=	GRCh38
NC_000012.11:g.103237476G= , CM000674.1:g.103237476G=	GRCh37
NC_000012.10:g.101761606G=	NCBI36
NG_008690.1:g.78905C=
NG_008690.2:g.119713C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1147C= MANE Select	ENSP00000448059.1:p.Gln383=
ENST00000307000.7:c.1132C=	ENSP00000303500.2:p.Gln378=
ENST00000549247.6:n.906C=
ENST00000551114.2:n.809C=
ENST00000553106.5:c.1147C=	ENSP00000448059.1:p.Gln383=
ENST00000635477.1:c.251C=
ENST00000635528.1:n.662C=
NM_000277.1:c.1147C=	NP_000268.1:p.Gln383=
XM_011538422.1:c.1090C=	XP_011536724.1:p.Gln364=
NM_000277.2:c.1147C=	NP_000268.1:p.Gln383=
NM_001354304.1:c.1147C=	NP_001341233.1:p.Gln383=
NM_000277.3:c.1147C= MANE Select	NP_000268.1:p.Gln383=
NM_001354304.2:c.1147C=	NP_001341233.1:p.Gln383=