Canonical Allele Identifier: CA2059476322

Gene: PAH

Linked Data

• dbSNP Id: rs938529013
• gnomAD v4: 12-102917372-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917372G>A , CM000674.2:g.102917372G>A	GRCh38
NC_000012.11:g.103311150G>A , CM000674.1:g.103311150G>A	GRCh37
NC_000012.10:g.101835280G>A	NCBI36
NG_008690.1:g.5232C>T
NG_008690.2:g.46039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-147C>T
ENST00000546844.1:c.-95-147C>T	ENSP00000446658.1:n.-95-147C>T
ENST00000547319.1:n.217-147C>T
ENST00000551337.5:c.-95-147C>T	ENSP00000447620.1:n.-95-147C>T
ENST00000553106.5:c.-242C>T	ENSP00000448059.1:n.-242C>T
ENST00000635500.1:n.29-4474C>T
NM_000277.1:c.-241C>T	NP_000268.1:n.-241C>T
NM_000277.2:c.-242C>T	NP_000268.1:n.-242C>T
NM_001354304.1:c.-95-147C>T	NP_001341233.1:n.-95-147C>T
NM_001354304.2:c.-95-147C>T	NP_001341233.1:n.-95-147C>T