Canonical Allele Identifier: CA2620507282
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102843724-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843725del , CM000674.2:g.102843725del GRCh38
NC_000012.11:g.103237503del , CM000674.1:g.103237503del GRCh37
NC_000012.10:g.101761633del NCBI36
NG_008690.1:g.78878del
NG_008690.2:g.119686del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1120del MANE Select ENSP00000448059.1:p.Ile374SerfsTer26
ENST00000307000.7:c.1105del ENSP00000303500.2:p.Ile369SerfsTer26
ENST00000549247.6:n.879del
ENST00000551114.2:n.782del
ENST00000553106.5:c.1120del ENSP00000448059.1:p.Ile374SerfsTer26
ENST00000635477.1:c.224del
ENST00000635528.1:n.635del
NM_000277.1:c.1120del NP_000268.1:p.Ile374SerfsTer26
XM_011538422.1:c.1063del XP_011536724.1:p.Ile355SerfsTer26
NM_000277.2:c.1120del NP_000268.1:p.Ile374SerfsTer26
NM_001354304.1:c.1120del NP_001341233.1:p.Ile374SerfsTer26
NM_000277.3:c.1120del MANE Select NP_000268.1:p.Ile374SerfsTer26
NM_001354304.2:c.1120del NP_001341233.1:p.Ile374SerfsTer26
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