Canonical Allele Identifier: CA2620509598

Gene: PAH

Linked Data

• gnomAD v4: 12-102846938-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846939del , CM000674.2:g.102846939del	GRCh38
NC_000012.11:g.103240717del , CM000674.1:g.103240717del	GRCh37
NC_000012.10:g.101764847del	NCBI36
NG_008690.1:g.75664del
NG_008690.2:g.116472del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.925del MANE Select	ENSP00000448059.1:p.Ala309ProfsTer?
ENST00000307000.7:c.910del	ENSP00000303500.2:p.Ala304ProfsTer?
ENST00000549247.6:n.684del
ENST00000551114.2:n.587del
ENST00000553106.5:c.925del	ENSP00000448059.1:p.Ala309ProfsTer?
ENST00000635477.1:c.74-2508del
ENST00000635528.1:n.440del
NM_000277.1:c.925del	NP_000268.1:p.Ala309ProfsTer?
XM_011538422.1:c.913-2508del	XP_011536724.1:n.913-2508del
NM_000277.2:c.925del	NP_000268.1:p.Ala309ProfsTer?
NM_001354304.1:c.925del	NP_001341233.1:p.Ala309ProfsTer?
NM_000277.3:c.925del MANE Select	NP_000268.1:p.Ala309ProfsTer?
NM_001354304.2:c.925del	NP_001341233.1:p.Ala309ProfsTer?