Canonical Allele Identifier: CA2059448978

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855110G= , CM000674.2:g.102855110G=	GRCh38
NC_000012.11:g.103248888G= , CM000674.1:g.103248888G=	GRCh37
NC_000012.10:g.101773018G=	NCBI36
NG_008690.1:g.67493C=
NG_008690.2:g.108301C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.706+26C= MANE Select	ENSP00000448059.1:n.706+26C=
ENST00000307000.7:c.691+26C=	ENSP00000303500.2:n.691+26C=
ENST00000549111.5:n.828C=
ENST00000553106.5:c.706+26C=	ENSP00000448059.1:n.706+26C=
NM_000277.1:c.706+26C=	NP_000268.1:n.706+26C=
XM_011538422.1:c.706+26C=	XP_011536724.1:n.706+26C=
NM_000277.2:c.706+26C=	NP_000268.1:n.706+26C=
NM_001354304.1:c.706+26C=	NP_001341233.1:n.706+26C=
XM_017019370.2:c.706+26C=	XP_016874859.1:n.706+26C=
NM_000277.3:c.706+26C= MANE Select	NP_000268.1:n.706+26C=
NM_001354304.2:c.706+26C=	NP_001341233.1:n.706+26C=