Canonical Allele Identifier: CA2059444510

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851715G= , CM000674.2:g.102851715G=	GRCh38
NC_000012.11:g.103245493G= , CM000674.1:g.103245493G=	GRCh37
NC_000012.10:g.101769623G=	NCBI36
NG_008690.1:g.70888C=
NG_008690.2:g.111696C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.884C= MANE Select	ENSP00000448059.1:p.Ser295=
ENST00000307000.7:c.869C=	ENSP00000303500.2:p.Ser290=
ENST00000549247.6:n.643C=
ENST00000551114.2:n.546C=
ENST00000553106.5:c.884C=	ENSP00000448059.1:p.Ser295=
ENST00000635477.1:c.45C=
NM_000277.1:c.884C=	NP_000268.1:p.Ser295=
XM_011538422.1:c.884C=	XP_011536724.1:p.Ser295=
NM_000277.2:c.884C=	NP_000268.1:p.Ser295=
NM_001354304.1:c.884C=	NP_001341233.1:p.Ser295=
NM_000277.3:c.884C= MANE Select	NP_000268.1:p.Ser295=
NM_001354304.2:c.884C=	NP_001341233.1:p.Ser295=