Canonical Allele Identifier: CA2839521092

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917079dup , CM000674.2:g.102917079dup	GRCh38
NC_000012.11:g.103310857dup , CM000674.1:g.103310857dup	GRCh37
NC_000012.10:g.101834987dup	NCBI36
NG_008690.1:g.5526dup
NG_008690.2:g.46334dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.54dup MANE Select	ENSP00000448059.1:p.Gly19TrpfsTer8
ENST00000307000.7:c.-94dup	ENSP00000303500.2:n.-94dup
ENST00000546844.1:c.54dup	ENSP00000446658.1:p.Gly19TrpfsTer8
ENST00000547319.1:n.365dup
ENST00000549111.5:n.150dup
ENST00000550978.6:c.38dup
ENST00000551337.5:c.54dup	ENSP00000447620.1:p.Gly19TrpfsTer8
ENST00000551988.5:n.143dup
ENST00000553106.5:c.54dup	ENSP00000448059.1:p.Gly19TrpfsTer8
ENST00000635500.1:n.29-4179dup
NM_000277.1:c.54dup	NP_000268.1:p.Gly19TrpfsTer8
XM_011538422.1:c.54dup	XP_011536724.1:p.Gly19TrpfsTer8
NM_000277.2:c.54dup	NP_000268.1:p.Gly19TrpfsTer8
NM_001354304.1:c.54dup	NP_001341233.1:p.Gly19TrpfsTer8
XM_017019370.2:c.54dup	XP_016874859.1:p.Gly19TrpfsTer8
NM_000277.3:c.54dup MANE Select	NP_000268.1:p.Gly19TrpfsTer8
NM_001354304.2:c.54dup	NP_001341233.1:p.Gly19TrpfsTer8