Canonical Allele Identifier: CA645372919

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.[102852922C>T;102852935del] , CM000674.2:g.[102852922C>T;102852935del]	GRCh38
NC_000012.11:g.[103246700C>T;103246713del] , CM000674.1:g.[103246700C>T;103246713del]	GRCh37
NC_000012.10:g.[101770830C>T;101770843del]	NCBI36
NG_008690.1:g.[69668del;69681G>A]
NG_008690.2:g.[110476del;110489G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.[722del;735G>A] MANE Select	ENSP00000448059.1:p.Arg241ProfsTer5
ENST00000307000.7:c.[707del;720G>A]	ENSP00000303500.2:p.Arg236ProfsTer5
ENST00000549247.6:n.[481del;494G>A]
ENST00000553106.5:c.[722del;735G>A]	ENSP00000448059.1:p.Arg241ProfsTer5
NM_000277.1:c.[722del;735G>A]	NP_000268.1:p.Arg241ProfsTer5
XM_011538422.1:c.[722del;735G>A]	XP_011536724.1:p.Arg241ProfsTer5
NM_000277.2:c.[722del;735G>A]	NP_000268.1:p.Arg241ProfsTer5
NM_001354304.1:c.[722del;735G>A]	NP_001341233.1:p.Arg241ProfsTer5
NM_000277.3:c.[722del;735G>A] MANE Select	NP_000268.1:p.Arg241ProfsTer5
NM_001354304.2:c.[722del;735G>A]	NP_001341233.1:p.Arg241ProfsTer5