Canonical Allele Identifier: CA2059448761

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844517G= , CM000674.2:g.102844517G=	GRCh38
NC_000012.11:g.103238295G= , CM000674.1:g.103238295G=	GRCh37
NC_000012.10:g.101762425G=	NCBI36
NG_008690.1:g.78086C=
NG_008690.2:g.118894C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-86C= MANE Select	ENSP00000448059.1:n.970-86C=
ENST00000307000.7:c.955-86C=	ENSP00000303500.2:n.955-86C=
ENST00000549247.6:n.729-86C=
ENST00000551114.2:n.632-86C=
ENST00000553106.5:c.970-86C=	ENSP00000448059.1:n.970-86C=
ENST00000635477.1:c.74-86C=
ENST00000635528.1:n.485-86C=
NM_000277.1:c.970-86C=	NP_000268.1:n.970-86C=
XM_011538422.1:c.913-86C=	XP_011536724.1:n.913-86C=
NM_000277.2:c.970-86C=	NP_000268.1:n.970-86C=
NM_001354304.1:c.970-86C=	NP_001341233.1:n.970-86C=
NM_000277.3:c.970-86C= MANE Select	NP_000268.1:n.970-86C=
NM_001354304.2:c.970-86C=	NP_001341233.1:n.970-86C=