Canonical Allele Identifier: CA2797242739

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840500dup , CM000674.2:g.102840500dup	GRCh38
NC_000012.11:g.103234278dup , CM000674.1:g.103234278dup	GRCh37
NC_000012.10:g.101758408dup	NCBI36
NG_008690.1:g.82104dup
NG_008690.2:g.122912dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1216dup MANE Select	ENSP00000448059.1:p.Ile406AsnfsTer17
ENST00000307000.7:c.1201dup	ENSP00000303500.2:p.Ile401AsnfsTer17
ENST00000551114.2:n.878dup
ENST00000553106.5:c.1216dup	ENSP00000448059.1:p.Ile406AsnfsTer17
ENST00000635477.1:c.320dup
ENST00000635528.1:n.731dup
NM_000277.1:c.1216dup	NP_000268.1:p.Ile406AsnfsTer17
XM_011538422.1:c.1159dup	XP_011536724.1:p.Ile387AsnfsTer17
NM_000277.2:c.1216dup	NP_000268.1:p.Ile406AsnfsTer17
NM_001354304.1:c.1216dup	NP_001341233.1:p.Ile406AsnfsTer17
NM_000277.3:c.1216dup MANE Select	NP_000268.1:p.Ile406AsnfsTer17
NM_001354304.2:c.1216dup	NP_001341233.1:p.Ile406AsnfsTer17