Canonical Allele Identifier: CA2059451661

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102847068T= , CM000674.2:g.102847068T=	GRCh38
NC_000012.11:g.103240846T= , CM000674.1:g.103240846T=	GRCh37
NC_000012.10:g.101764976T=	NCBI36
NG_008690.1:g.75535A=
NG_008690.2:g.116343A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.913-117A= MANE Select	ENSP00000448059.1:n.913-117A=
ENST00000307000.7:c.898-117A=	ENSP00000303500.2:n.898-117A=
ENST00000549247.6:n.672-117A=
ENST00000551114.2:n.575-117A=
ENST00000553106.5:c.913-117A=	ENSP00000448059.1:n.913-117A=
ENST00000635477.1:c.74-2637A=
ENST00000635528.1:n.311A=
NM_000277.1:c.913-117A=	NP_000268.1:n.913-117A=
XM_011538422.1:c.913-2637A=	XP_011536724.1:n.913-2637A=
NM_000277.2:c.913-117A=	NP_000268.1:n.913-117A=
NM_001354304.1:c.913-117A=	NP_001341233.1:n.913-117A=
NM_000277.3:c.913-117A= MANE Select	NP_000268.1:n.913-117A=
NM_001354304.2:c.913-117A=	NP_001341233.1:n.913-117A=