Canonical Allele Identifier: CA2580085685

Gene: PAH

Linked Data

• ClinVar Variation Id: 1724054
• ClinVar RCV Id: RCV002306609

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866638del , CM000674.2:g.102866638del	GRCh38
NC_000012.11:g.103260416del , CM000674.1:g.103260416del	GRCh37
NC_000012.10:g.101784546del	NCBI36
NG_008690.1:g.55965del
NG_008690.2:g.96773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.467del MANE Select	ENSP00000448059.1:p.Ala156GlufsTer?
ENST00000307000.7:c.452del	ENSP00000303500.2:p.Ala151GlufsTer?
ENST00000549111.5:n.563del
ENST00000551988.5:n.530+10824del
ENST00000553106.5:c.467del	ENSP00000448059.1:p.Ala156GlufsTer?
NM_000277.1:c.467del	NP_000268.1:p.Ala156GlufsTer?
XM_011538422.1:c.467del	XP_011536724.1:p.Ala156GlufsTer?
NM_000277.2:c.467del	NP_000268.1:p.Ala156GlufsTer?
NM_001354304.1:c.467del	NP_001341233.1:p.Ala156GlufsTer?
XM_017019370.2:c.467del	XP_016874859.1:p.Ala156GlufsTer?
NM_000277.3:c.467del MANE Select	NP_000268.1:p.Ala156GlufsTer?
NM_001354304.2:c.467del	NP_001341233.1:p.Ala156GlufsTer?