Canonical Allele Identifier: CA386299459

Gene: PAH

Linked Data

• dbSNP Id: rs144835074
• MyVariant Identifiers: chr12:g.103260377_103260378insGGGAG (hg19) ; chr12:g.102866599_102866600insGGGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866601_102866602insGAGGG , CM000674.2:g.102866601_102866602insGAGGG	GRCh38
NC_000012.11:g.103260379_103260380insGAGGG , CM000674.1:g.103260379_103260380insGAGGG	GRCh37
NC_000012.10:g.101784509_101784510insGAGGG	NCBI36
NG_008690.1:g.56003_56004insCTCCC
NG_008690.2:g.96811_96812insCTCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.505_506insCTCCC MANE Select	ENSP00000448059.1:p.Arg169ProfsTer28
ENST00000307000.7:c.490_491insCTCCC	ENSP00000303500.2:p.Arg164ProfsTer28
ENST00000549111.5:n.601_602insCTCCC
ENST00000551988.5:n.530+10862_530+10863insCTCCC
ENST00000553106.5:c.505_506insCTCCC	ENSP00000448059.1:p.Arg169ProfsTer28
NM_000277.1:c.505_506insCTCCC	NP_000268.1:p.Arg169ProfsTer28
XM_011538422.1:c.505_506insCTCCC	XP_011536724.1:p.Arg169ProfsTer28
NM_000277.2:c.505_506insCTCCC	NP_000268.1:p.Arg169ProfsTer28
NM_001354304.1:c.505_506insCTCCC	NP_001341233.1:p.Arg169ProfsTer28
XM_017019370.2:c.505_506insCTCCC	XP_016874859.1:p.Arg169ProfsTer28
NM_000277.3:c.505_506insCTCCC MANE Select	NP_000268.1:p.Arg169ProfsTer28
NM_001354304.2:c.505_506insCTCCC	NP_001341233.1:p.Arg169ProfsTer28