Canonical Allele Identifier: CA2059442277

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840603T= , CM000674.2:g.102840603T=	GRCh38
NC_000012.11:g.103234381T= , CM000674.1:g.103234381T=	GRCh37
NC_000012.10:g.101758511T=	NCBI36
NG_008690.1:g.82000A=
NG_008690.2:g.122808A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1200-88A= MANE Select	ENSP00000448059.1:n.1200-88A=
ENST00000307000.7:c.1185-88A=	ENSP00000303500.2:n.1185-88A=
ENST00000549247.6:n.959-88A=
ENST00000551114.2:n.862-88A=
ENST00000553106.5:c.1200-88A=	ENSP00000448059.1:n.1200-88A=
ENST00000635477.1:c.304-88A=
ENST00000635528.1:n.715-88A=
NM_000277.1:c.1200-88A=	NP_000268.1:n.1200-88A=
XM_011538422.1:c.1143-88A=	XP_011536724.1:n.1143-88A=
NM_000277.2:c.1200-88A=	NP_000268.1:n.1200-88A=
NM_001354304.1:c.1200-88A=	NP_001341233.1:n.1200-88A=
NM_000277.3:c.1200-88A= MANE Select	NP_000268.1:n.1200-88A=
NM_001354304.2:c.1200-88A=	NP_001341233.1:n.1200-88A=