Canonical Allele Identifier: CA682819311

Gene: PAH

Linked Data

• dbSNP Id: rs1208897629
• gnomAD v3: 12-102917365-CGGAGG-C
• gnomAD v4: 12-102917365-CGGAGG-C
• MyVariant Identifiers: chr12:g.103311144_103311148del (hg19) ; chr12:g.102917366_102917370del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917373_102917377del , CM000674.2:g.102917373_102917377del	GRCh38
NC_000012.11:g.103311151_103311155del , CM000674.1:g.103311151_103311155del	GRCh37
NC_000012.10:g.101835281_101835285del	NCBI36
NG_008690.1:g.5234_5238del
NG_008690.2:g.46041_46045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-145_493-141del
ENST00000546844.1:c.-95-145_-95-141del	ENSP00000446658.1:n.-95-145_-95-141del
ENST00000547319.1:n.217-145_217-141del
ENST00000551337.5:c.-95-145_-95-141del	ENSP00000447620.1:n.-95-145_-95-141del
ENST00000553106.5:c.-240_-236del	ENSP00000448059.1:n.-240_-236del
ENST00000635500.1:n.29-4472_29-4468del
NM_000277.1:c.-239_-235del	NP_000268.1:n.-239_-235del
NM_000277.2:c.-240_-236del	NP_000268.1:n.-240_-236del
NM_001354304.1:c.-95-145_-95-141del	NP_001341233.1:n.-95-145_-95-141del
NM_001354304.2:c.-95-145_-95-141del	NP_001341233.1:n.-95-145_-95-141del