Canonical Allele Identifier: CA2059446491

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852888C= , CM000674.2:g.102852888C=	GRCh38
NC_000012.11:g.103246666C= , CM000674.1:g.103246666C=	GRCh37
NC_000012.10:g.101770796C=	NCBI36
NG_008690.1:g.69715G=
NG_008690.2:g.110523G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.769G= MANE Select	ENSP00000448059.1:p.Gly257=
ENST00000307000.7:c.754G=	ENSP00000303500.2:p.Gly252=
ENST00000549247.6:n.528G=
ENST00000553106.5:c.769G=	ENSP00000448059.1:p.Gly257=
NM_000277.1:c.769G=	NP_000268.1:p.Gly257=
XM_011538422.1:c.769G=	XP_011536724.1:p.Gly257=
NM_000277.2:c.769G=	NP_000268.1:p.Gly257=
NM_001354304.1:c.769G=	NP_001341233.1:p.Gly257=
NM_000277.3:c.769G= MANE Select	NP_000268.1:p.Gly257=
NM_001354304.2:c.769G=	NP_001341233.1:p.Gly257=