Canonical Allele Identifier: CA2695217155

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852875_102852876delinsGA , CM000674.2:g.102852875_102852876delinsGA	GRCh38
NC_000012.11:g.103246653_103246654delinsGA , CM000674.1:g.103246653_103246654delinsGA	GRCh37
NC_000012.10:g.101770783_101770784delinsGA	NCBI36
NG_008690.1:g.69727_69728delinsTC
NG_008690.2:g.110535_110536delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.781_782delinsTC MANE Select	ENSP00000448059.1:p.Arg261Ser
ENST00000307000.7:c.766_767delinsTC	ENSP00000303500.2:p.Arg256Ser
ENST00000549247.6:n.540_541delinsTC
ENST00000553106.5:c.781_782delinsTC	ENSP00000448059.1:p.Arg261Ser
NM_000277.1:c.781_782delinsTC	NP_000268.1:p.Arg261Ser
XM_011538422.1:c.781_782delinsTC	XP_011536724.1:p.Arg261Ser
NM_000277.2:c.781_782delinsTC	NP_000268.1:p.Arg261Ser
NM_001354304.1:c.781_782delinsTC	NP_001341233.1:p.Arg261Ser
NM_000277.3:c.781_782delinsTC MANE Select	NP_000268.1:p.Arg261Ser
NM_001354304.2:c.781_782delinsTC	NP_001341233.1:p.Arg261Ser