Canonical Allele Identifier: CA2059446412

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852867G= , CM000674.2:g.102852867G=	GRCh38
NC_000012.11:g.103246645G= , CM000674.1:g.103246645G=	GRCh37
NC_000012.10:g.101770775G=	NCBI36
NG_008690.1:g.69736C=
NG_008690.2:g.110544C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.790C= MANE Select	ENSP00000448059.1:p.His264=
ENST00000307000.7:c.775C=	ENSP00000303500.2:p.His259=
ENST00000549247.6:n.549C=
ENST00000553106.5:c.790C=	ENSP00000448059.1:p.His264=
NM_000277.1:c.790C=	NP_000268.1:p.His264=
XM_011538422.1:c.790C=	XP_011536724.1:p.His264=
NM_000277.2:c.790C=	NP_000268.1:p.His264=
NM_001354304.1:c.790C=	NP_001341233.1:p.His264=
NM_000277.3:c.790C= MANE Select	NP_000268.1:p.His264=
NM_001354304.2:c.790C=	NP_001341233.1:p.His264=