Canonical Allele Identifier: CA951234615

Gene: PAH

Linked Data

• dbSNP Id: rs368141798
• gnomAD v3: 12-102851125-C-CTT
• gnomAD v4: 12-102851125-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851132_102851133dup , CM000674.2:g.102851132_102851133dup	GRCh38
NC_000012.11:g.103244910_103244911dup , CM000674.1:g.103244910_103244911dup	GRCh37
NC_000012.10:g.101769040_101769041dup	NCBI36
NG_008690.1:g.71476_71477dup
NG_008690.2:g.112284_112285dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.912+560_912+561dup MANE Select	ENSP00000448059.1:n.912+560_912+561dup
ENST00000307000.7:c.897+560_897+561dup	ENSP00000303500.2:n.897+560_897+561dup
ENST00000549247.6:n.671+560_671+561dup
ENST00000551114.2:n.574+560_574+561dup
ENST00000553106.5:c.912+560_912+561dup	ENSP00000448059.1:n.912+560_912+561dup
ENST00000635477.1:c.73+560_73+561dup
NM_000277.1:c.912+560_912+561dup	NP_000268.1:n.912+560_912+561dup
XM_011538422.1:c.912+560_912+561dup	XP_011536724.1:n.912+560_912+561dup
NM_000277.2:c.912+560_912+561dup	NP_000268.1:n.912+560_912+561dup
NM_001354304.1:c.912+560_912+561dup	NP_001341233.1:n.912+560_912+561dup
NM_000277.3:c.912+560_912+561dup MANE Select	NP_000268.1:n.912+560_912+561dup
NM_001354304.2:c.912+560_912+561dup	NP_001341233.1:n.912+560_912+561dup