Canonical Allele Identifier: CA2797244103

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917373A>T , CM000674.2:g.102917373A>T	GRCh38
NC_000012.11:g.103311151A>T , CM000674.1:g.103311151A>T	GRCh37
NC_000012.10:g.101835281A>T	NCBI36
NG_008690.1:g.5231T>A
NG_008690.2:g.46038T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-148T>A
ENST00000546844.1:c.-95-148T>A	ENSP00000446658.1:n.-95-148T>A
ENST00000547319.1:n.217-148T>A
ENST00000551337.5:c.-95-148T>A	ENSP00000447620.1:n.-95-148T>A
ENST00000553106.5:c.-243T>A	ENSP00000448059.1:n.-243T>A
ENST00000635500.1:n.29-4475T>A
NM_000277.1:c.-242T>A	NP_000268.1:n.-242T>A
NM_000277.2:c.-243T>A	NP_000268.1:n.-243T>A
NM_001354304.1:c.-95-148T>A	NP_001341233.1:n.-95-148T>A
NM_001354304.2:c.-95-148T>A	NP_001341233.1:n.-95-148T>A