Canonical Allele Identifier: CA645584083

Gene: PAH

Linked Data

• COSMIC: COSM4610931

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852837dup , CM000674.2:g.102852837dup	GRCh38
NC_000012.11:g.103246615dup , CM000674.1:g.103246615dup	GRCh37
NC_000012.10:g.101770745dup	NCBI36
NG_008690.1:g.69767dup
NG_008690.2:g.110575dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.821dup MANE Select	ENSP00000448059.1:p.Pro275AlafsTer8
ENST00000307000.7:c.806dup	ENSP00000303500.2:p.Pro270AlafsTer8
ENST00000549247.6:n.580dup
ENST00000553106.5:c.821dup	ENSP00000448059.1:p.Pro275AlafsTer8
NM_000277.1:c.821dup	NP_000268.1:p.Pro275AlafsTer8
XM_011538422.1:c.821dup	XP_011536724.1:p.Pro275AlafsTer8
NM_000277.2:c.821dup	NP_000268.1:p.Pro275AlafsTer8
NM_001354304.1:c.821dup	NP_001341233.1:p.Pro275AlafsTer8
NM_000277.3:c.821dup MANE Select	NP_000268.1:p.Pro275AlafsTer8
NM_001354304.2:c.821dup	NP_001341233.1:p.Pro275AlafsTer8