Canonical Allele Identifier: CA16020798

Gene: PAH

Linked Data

• ClinVar Variation Id: 590772
• ClinVar RCV Id: RCV000721919
• dbSNP Id: rs1565853495

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866634_102866635delinsGT , CM000674.2:g.102866634_102866635delinsGT	GRCh38
NC_000012.11:g.103260412_103260413delinsGT , CM000674.1:g.103260412_103260413delinsGT	GRCh37
NC_000012.10:g.101784542_101784543delinsGT	NCBI36
NG_008690.1:g.55968_55969delinsAC
NG_008690.2:g.96776_96777delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.470_471delinsAC MANE Select	ENSP00000448059.1:p.Arg157Asn
ENST00000307000.7:c.455_456delinsAC	ENSP00000303500.2:p.Arg152Asn
ENST00000549111.5:n.566_567delinsAC
ENST00000551988.5:n.530+10827_530+10828delinsAC
ENST00000553106.5:c.470_471delinsAC	ENSP00000448059.1:p.Arg157Asn
NM_000277.1:c.470_471delinsAC	NP_000268.1:p.Arg157Asn
XM_011538422.1:c.470_471delinsAC	XP_011536724.1:p.Arg157Asn
NM_000277.2:c.470_471delinsAC	NP_000268.1:p.Arg157Asn
NM_001354304.1:c.470_471delinsAC	NP_001341233.1:p.Arg157Asn
XM_017019370.2:c.470_471delinsAC	XP_016874859.1:p.Arg157Asn
NM_000277.3:c.470_471delinsAC MANE Select	NP_000268.1:p.Arg157Asn
NM_001354304.2:c.470_471delinsAC	NP_001341233.1:p.Arg157Asn