Canonical Allele Identifier: CA2059443946

Gene: PAH

Linked Data

• dbSNP Id: rs1875140991

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851389dup , CM000674.2:g.102851389dup	GRCh38
NC_000012.11:g.103245167dup , CM000674.1:g.103245167dup	GRCh37
NC_000012.10:g.101769297dup	NCBI36
NG_008690.1:g.71215dup
NG_008690.2:g.112023dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.912+299dup MANE Select	ENSP00000448059.1:n.912+299dup
ENST00000307000.7:c.897+299dup	ENSP00000303500.2:n.897+299dup
ENST00000549247.6:n.671+299dup
ENST00000551114.2:n.574+299dup
ENST00000553106.5:c.912+299dup	ENSP00000448059.1:n.912+299dup
ENST00000635477.1:c.73+299dup
NM_000277.1:c.912+299dup	NP_000268.1:n.912+299dup
XM_011538422.1:c.912+299dup	XP_011536724.1:n.912+299dup
NM_000277.2:c.912+299dup	NP_000268.1:n.912+299dup
NM_001354304.1:c.912+299dup	NP_001341233.1:n.912+299dup
NM_000277.3:c.912+299dup MANE Select	NP_000268.1:n.912+299dup
NM_001354304.2:c.912+299dup	NP_001341233.1:n.912+299dup