Canonical Allele Identifier: CA229260

Gene: PAH

Linked Data

• ClinVar Variation Id: 102461
• ClinVar RCV Id: RCV000088692
• dbSNP Id: rs199475594
• MyVariant Identifiers: chr12:g.103311133C>T (hg19) ; chr12:g.102917355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917355C>T , CM000674.2:g.102917355C>T	GRCh38
NC_000012.11:g.103311133C>T , CM000674.1:g.103311133C>T	GRCh37
NC_000012.10:g.101835263C>T	NCBI36
NG_008690.1:g.5249G>A
NG_008690.2:g.46056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-130G>A
ENST00000546844.1:c.-95-130G>A	ENSP00000446658.1:n.-95-130G>A
ENST00000547319.1:n.217-130G>A
ENST00000551337.5:c.-95-130G>A	ENSP00000447620.1:n.-95-130G>A
ENST00000553106.5:c.-225G>A	ENSP00000448059.1:n.-225G>A
ENST00000635500.1:n.29-4457G>A
NM_000277.1:c.-224G>A	NP_000268.1:n.-224G>A
NM_000277.2:c.-225G>A	NP_000268.1:n.-225G>A
NM_001354304.1:c.-95-130G>A	NP_001341233.1:n.-95-130G>A
NM_001354304.2:c.-95-130G>A	NP_001341233.1:n.-95-130G>A