Canonical Allele Identifier: CA2580085691

Gene: PAH

Linked Data

• ClinVar Variation Id: 2088359
• ClinVar RCV Id: RCV003002885

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852824dup , CM000674.2:g.102852824dup	GRCh38
NC_000012.11:g.103246602dup , CM000674.1:g.103246602dup	GRCh37
NC_000012.10:g.101770732dup	NCBI36
NG_008690.1:g.69783dup
NG_008690.2:g.110591dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.837dup MANE Select	ENSP00000448059.1:p.Glu280ArgfsTer3
ENST00000307000.7:c.822dup	ENSP00000303500.2:p.Glu275ArgfsTer3
ENST00000549247.6:n.596dup
ENST00000553106.5:c.837dup	ENSP00000448059.1:p.Glu280ArgfsTer3
NM_000277.1:c.837dup	NP_000268.1:p.Glu280ArgfsTer3
XM_011538422.1:c.837dup	XP_011536724.1:p.Glu280ArgfsTer3
NM_000277.2:c.837dup	NP_000268.1:p.Glu280ArgfsTer3
NM_001354304.1:c.837dup	NP_001341233.1:p.Glu280ArgfsTer3
NM_000277.3:c.837dup MANE Select	NP_000268.1:p.Glu280ArgfsTer3
NM_001354304.2:c.837dup	NP_001341233.1:p.Glu280ArgfsTer3