Canonical Allele Identifier: CA2620510269

Gene: PAH

Linked Data

• gnomAD v4: 12-102917174-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917174G>A , CM000674.2:g.102917174G>A	GRCh38
NC_000012.11:g.103310952G>A , CM000674.1:g.103310952G>A	GRCh37
NC_000012.10:g.101835082G>A	NCBI36
NG_008690.1:g.5429C>T
NG_008690.2:g.46237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.-44C>T MANE Select	ENSP00000448059.1:n.-44C>T
ENST00000307000.7:c.-191C>T	ENSP00000303500.2:n.-191C>T
ENST00000546708.5:n.544C>T
ENST00000546844.1:c.-44C>T	ENSP00000446658.1:n.-44C>T
ENST00000547319.1:n.268C>T
ENST00000549111.5:n.53C>T
ENST00000551337.5:c.-44C>T	ENSP00000447620.1:n.-44C>T
ENST00000551988.5:n.46C>T
ENST00000553106.5:c.-44C>T	ENSP00000448059.1:n.-44C>T
ENST00000635500.1:n.29-4276C>T
NM_000277.1:c.-44C>T	NP_000268.1:n.-44C>T
XM_011538422.1:c.-44C>T	XP_011536724.1:n.-44C>T
NM_000277.2:c.-44C>T	NP_000268.1:n.-44C>T
NM_001354304.1:c.-44C>T	NP_001341233.1:n.-44C>T
XM_017019370.2:c.-44C>T	XP_016874859.1:n.-44C>T
NM_000277.3:c.-44C>T MANE Select	NP_000268.1:n.-44C>T
NM_001354304.2:c.-44C>T	NP_001341233.1:n.-44C>T