Canonical Allele Identifier: CA2739277285

Gene: PAH

Linked Data

• ClinVar Variation Id: 2810221
• ClinVar RCV Id: RCV003598981

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844381_102844394dup , CM000674.2:g.102844381_102844394dup	GRCh38
NC_000012.11:g.103238159_103238172dup , CM000674.1:g.103238159_103238172dup	GRCh37
NC_000012.10:g.101762289_101762302dup	NCBI36
NG_008690.1:g.78213_78226dup
NG_008690.2:g.119021_119034dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1011_1024dup MANE Select	ENSP00000448059.1:p.Ala342GlufsTer4
ENST00000307000.7:c.996_1009dup	ENSP00000303500.2:p.Ala337GlufsTer4
ENST00000549247.6:n.770_783dup
ENST00000551114.2:n.673_686dup
ENST00000553106.5:c.1011_1024dup	ENSP00000448059.1:p.Ala342GlufsTer4
ENST00000635477.1:c.115_128dup
ENST00000635528.1:n.526_539dup
NM_000277.1:c.1011_1024dup	NP_000268.1:p.Ala342GlufsTer4
XM_011538422.1:c.954_967dup	XP_011536724.1:p.Ala323GlufsTer4
NM_000277.2:c.1011_1024dup	NP_000268.1:p.Ala342GlufsTer4
NM_001354304.1:c.1011_1024dup	NP_001341233.1:p.Ala342GlufsTer4
NM_000277.3:c.1011_1024dup MANE Select	NP_000268.1:p.Ala342GlufsTer4
NM_001354304.2:c.1011_1024dup	NP_001341233.1:p.Ala342GlufsTer4