Canonical Allele Identifier: CA2843248087

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843597dup , CM000674.2:g.102843597dup	GRCh38
NC_000012.11:g.103237375dup , CM000674.1:g.103237375dup	GRCh37
NC_000012.10:g.101761505dup	NCBI36
NG_008690.1:g.79007dup
NG_008690.2:g.119815dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1199+50dup MANE Select	ENSP00000448059.1:n.1199+50dup
ENST00000307000.7:c.1184+50dup	ENSP00000303500.2:n.1184+50dup
ENST00000549247.6:n.958+50dup
ENST00000551114.2:n.861+50dup
ENST00000553106.5:c.1199+50dup	ENSP00000448059.1:n.1199+50dup
ENST00000635477.1:c.303+50dup
ENST00000635528.1:n.714+50dup
NM_000277.1:c.1199+50dup	NP_000268.1:n.1199+50dup
XM_011538422.1:c.1142+50dup	XP_011536724.1:n.1142+50dup
NM_000277.2:c.1199+50dup	NP_000268.1:n.1199+50dup
NM_001354304.1:c.1199+50dup	NP_001341233.1:n.1199+50dup
NM_000277.3:c.1199+50dup MANE Select	NP_000268.1:n.1199+50dup
NM_001354304.2:c.1199+50dup	NP_001341233.1:n.1199+50dup