Canonical Allele Identifier: CA2552742874

Gene: PAH

Linked Data

• gnomAD v4: 12-102917333-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917333C>A , CM000674.2:g.102917333C>A	GRCh38
NC_000012.11:g.103311111C>A , CM000674.1:g.103311111C>A	GRCh37
NC_000012.10:g.101835241C>A	NCBI36
NG_008690.1:g.5271G>T
NG_008690.2:g.46078G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-108G>T
ENST00000546844.1:c.-95-108G>T	ENSP00000446658.1:n.-95-108G>T
ENST00000547319.1:n.217-108G>T
ENST00000551337.5:c.-95-108G>T	ENSP00000447620.1:n.-95-108G>T
ENST00000553106.5:c.-203G>T	ENSP00000448059.1:n.-203G>T
ENST00000635500.1:n.29-4435G>T
NM_000277.1:c.-202G>T	NP_000268.1:n.-202G>T
NM_000277.2:c.-203G>T	NP_000268.1:n.-203G>T
NM_001354304.1:c.-95-108G>T	NP_001341233.1:n.-95-108G>T
NM_001354304.2:c.-95-108G>T	NP_001341233.1:n.-95-108G>T