Canonical Allele Identifier: CA2582341664
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2627535
ClinVar RCV Id: RCV003388798
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843738del , CM000674.2:g.102843738del GRCh38
NC_000012.11:g.103237516del , CM000674.1:g.103237516del GRCh37
NC_000012.10:g.101761646del NCBI36
NG_008690.1:g.78866del
NG_008690.2:g.119674del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1108del MANE Select ENSP00000448059.1:p.Glu370ArgfsTer30
ENST00000307000.7:c.1093del ENSP00000303500.2:p.Glu365ArgfsTer30
ENST00000549247.6:n.867del
ENST00000551114.2:n.770del
ENST00000553106.5:c.1108del ENSP00000448059.1:p.Glu370ArgfsTer30
ENST00000635477.1:c.212del
ENST00000635528.1:n.623del
NM_000277.1:c.1108del NP_000268.1:p.Glu370ArgfsTer30
XM_011538422.1:c.1051del XP_011536724.1:p.Glu351ArgfsTer30
NM_000277.2:c.1108del NP_000268.1:p.Glu370ArgfsTer30
NM_001354304.1:c.1108del NP_001341233.1:p.Glu370ArgfsTer30
NM_000277.3:c.1108del MANE Select NP_000268.1:p.Glu370ArgfsTer30
NM_001354304.2:c.1108del NP_001341233.1:p.Glu370ArgfsTer30
Search 100 bp 5'
Search 100 bp 3'