Canonical Allele Identifier: CA2059449001

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844708C= , CM000674.2:g.102844708C=	GRCh38
NC_000012.11:g.103238486C= , CM000674.1:g.103238486C=	GRCh37
NC_000012.10:g.101762616C=	NCBI36
NG_008690.1:g.77895G=
NG_008690.2:g.118703G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-277G= MANE Select	ENSP00000448059.1:n.970-277G=
ENST00000307000.7:c.955-277G=	ENSP00000303500.2:n.955-277G=
ENST00000549247.6:n.729-277G=
ENST00000551114.2:n.632-277G=
ENST00000553106.5:c.970-277G=	ENSP00000448059.1:n.970-277G=
ENST00000635477.1:c.74-277G=
ENST00000635528.1:n.485-277G=
NM_000277.1:c.970-277G=	NP_000268.1:n.970-277G=
XM_011538422.1:c.913-277G=	XP_011536724.1:n.913-277G=
NM_000277.2:c.970-277G=	NP_000268.1:n.970-277G=
NM_001354304.1:c.970-277G=	NP_001341233.1:n.970-277G=
NM_000277.3:c.970-277G= MANE Select	NP_000268.1:n.970-277G=
NM_001354304.2:c.970-277G=	NP_001341233.1:n.970-277G=