Canonical Allele Identifier: CA16020715

Gene: PAH

Linked Data

• ClinVar Variation Id: 805800
• ClinVar RCV Id: RCV000993595
• dbSNP Id: rs1592991220
• ERepo: CA16020715/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917101dup , CM000674.2:g.102917101dup	GRCh38
NC_000012.11:g.103310879dup , CM000674.1:g.103310879dup	GRCh37
NC_000012.10:g.101835009dup	NCBI36
NG_008690.1:g.5502dup
NG_008690.2:g.46310dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.30dup MANE Select	ENSP00000448059.1:p.Arg13GlnfsTer5
ENST00000307000.7:c.-118dup	ENSP00000303500.2:n.-118dup
ENST00000546844.1:c.30dup	ENSP00000446658.1:p.Arg13GlnfsTer5
ENST00000547319.1:n.341dup
ENST00000549111.5:n.126dup
ENST00000550978.6:c.14dup
ENST00000551337.5:c.30dup	ENSP00000447620.1:p.Arg13GlnfsTer5
ENST00000551988.5:n.119dup
ENST00000553106.5:c.30dup	ENSP00000448059.1:p.Arg13GlnfsTer5
ENST00000635500.1:n.29-4203dup
NM_000277.1:c.30dup	NP_000268.1:p.Arg13GlnfsTer5
XM_011538422.1:c.30dup	XP_011536724.1:p.Arg13GlnfsTer5
NM_000277.2:c.30dup	NP_000268.1:p.Arg13GlnfsTer5
NM_001354304.1:c.30dup	NP_001341233.1:p.Arg13GlnfsTer5
XM_017019370.2:c.30dup	XP_016874859.1:p.Arg13GlnfsTer5
NM_000277.3:c.30dup MANE Select	NP_000268.1:p.Arg13GlnfsTer5
NM_001354304.2:c.30dup	NP_001341233.1:p.Arg13GlnfsTer5