Canonical Allele Identifier: CA2059451658

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102847067A= , CM000674.2:g.102847067A=	GRCh38
NC_000012.11:g.103240845A= , CM000674.1:g.103240845A=	GRCh37
NC_000012.10:g.101764975A=	NCBI36
NG_008690.1:g.75536T=
NG_008690.2:g.116344T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.913-116T= MANE Select	ENSP00000448059.1:n.913-116T=
ENST00000307000.7:c.898-116T=	ENSP00000303500.2:n.898-116T=
ENST00000549247.6:n.672-116T=
ENST00000551114.2:n.575-116T=
ENST00000553106.5:c.913-116T=	ENSP00000448059.1:n.913-116T=
ENST00000635477.1:c.74-2636T=
ENST00000635528.1:n.312T=
NM_000277.1:c.913-116T=	NP_000268.1:n.913-116T=
XM_011538422.1:c.913-2636T=	XP_011536724.1:n.913-2636T=
NM_000277.2:c.913-116T=	NP_000268.1:n.913-116T=
NM_001354304.1:c.913-116T=	NP_001341233.1:n.913-116T=
NM_000277.3:c.913-116T= MANE Select	NP_000268.1:n.913-116T=
NM_001354304.2:c.913-116T=	NP_001341233.1:n.913-116T=