Canonical Allele Identifier: CA1139660757

Gene: PAH

Linked Data

• ClinVar Variation Id: 950310
• ClinVar RCV Id: RCV001221995
• dbSNP Id: rs1875230062

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852856del , CM000674.2:g.102852856del	GRCh38
NC_000012.11:g.103246634del , CM000674.1:g.103246634del	GRCh37
NC_000012.10:g.101770764del	NCBI36
NG_008690.1:g.69747del
NG_008690.2:g.110555del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.801del MANE Select	ENSP00000448059.1:p.Gln267HisfsTer?
ENST00000307000.7:c.786del	ENSP00000303500.2:p.Gln262HisfsTer?
ENST00000549247.6:n.560del
ENST00000553106.5:c.801del	ENSP00000448059.1:p.Gln267HisfsTer?
NM_000277.1:c.801del	NP_000268.1:p.Gln267HisfsTer?
XM_011538422.1:c.801del	XP_011536724.1:p.Gln267HisfsTer?
NM_000277.2:c.801del	NP_000268.1:p.Gln267HisfsTer?
NM_001354304.1:c.801del	NP_001341233.1:p.Gln267HisfsTer?
NM_000277.3:c.801del MANE Select	NP_000268.1:p.Gln267HisfsTer?
NM_001354304.2:c.801del	NP_001341233.1:p.Gln267HisfsTer?