Canonical Allele Identifier: CA2059476341

Gene: PAH

Linked Data

• dbSNP Id: rs1878430578

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917401A>T , CM000674.2:g.102917401A>T	GRCh38
NC_000012.11:g.103311179A>T , CM000674.1:g.103311179A>T	GRCh37
NC_000012.10:g.101835309A>T	NCBI36
NG_008690.1:g.5203T>A
NG_008690.2:g.46010T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-176T>A
ENST00000546844.1:c.-95-176T>A	ENSP00000446658.1:n.-95-176T>A
ENST00000547319.1:n.217-176T>A
ENST00000551337.5:c.-95-176T>A	ENSP00000447620.1:n.-95-176T>A
ENST00000553106.5:c.-271T>A	ENSP00000448059.1:n.-271T>A
ENST00000635500.1:n.29-4503T>A
NM_000277.1:c.-270T>A	NP_000268.1:n.-270T>A
NM_000277.2:c.-271T>A	NP_000268.1:n.-271T>A
NM_001354304.1:c.-95-176T>A	NP_001341233.1:n.-95-176T>A
NM_001354304.2:c.-95-176T>A	NP_001341233.1:n.-95-176T>A