Canonical Allele Identifier: CA2979027454

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852949dup , CM000674.2:g.102852949dup	GRCh38
NC_000012.11:g.103246727dup , CM000674.1:g.103246727dup	GRCh37
NC_000012.10:g.101770857dup	NCBI36
NG_008690.1:g.69655dup
NG_008690.2:g.110463dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.709dup MANE Select	ENSP00000448059.1:p.Cys237LeufsTer?
ENST00000307000.7:c.694dup	ENSP00000303500.2:p.Cys232LeufsTer?
ENST00000549247.6:n.468dup
ENST00000553106.5:c.709dup	ENSP00000448059.1:p.Cys237LeufsTer?
NM_000277.1:c.709dup	NP_000268.1:p.Cys237LeufsTer?
XM_011538422.1:c.709dup	XP_011536724.1:p.Cys237LeufsTer?
NM_000277.2:c.709dup	NP_000268.1:p.Cys237LeufsTer?
NM_001354304.1:c.709dup	NP_001341233.1:p.Cys237LeufsTer?
NM_000277.3:c.709dup MANE Select	NP_000268.1:p.Cys237LeufsTer?
NM_001354304.2:c.709dup	NP_001341233.1:p.Cys237LeufsTer?