Canonical Allele Identifier: CA912973341
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103237442_103237443del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843664_102843665del , CM000674.2:g.102843664_102843665del GRCh38
NC_000012.11:g.103237442_103237443del , CM000674.1:g.103237442_103237443del GRCh37
NC_000012.10:g.101761572_101761573del NCBI36
NG_008690.1:g.78938_78939del
NG_008690.2:g.119746_119747del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1180_1181del MANE Select ENSP00000448059.1:p.Asp394CysfsTer28
ENST00000307000.7:c.1165_1166del ENSP00000303500.2:p.Asp389CysfsTer28
ENST00000549247.6:n.939_940del
ENST00000551114.2:n.842_843del
ENST00000553106.5:c.1180_1181del ENSP00000448059.1:p.Asp394CysfsTer28
ENST00000635477.1:c.284_285del
ENST00000635528.1:n.695_696del
NM_000277.1:c.1180_1181del NP_000268.1:p.Asp394CysfsTer28
XM_011538422.1:c.1123_1124del XP_011536724.1:p.Asp375CysfsTer28
NM_000277.2:c.1180_1181del NP_000268.1:p.Asp394CysfsTer28
NM_001354304.1:c.1180_1181del NP_001341233.1:p.Asp394CysfsTer28
NM_000277.3:c.1180_1181del MANE Select NP_000268.1:p.Asp394CysfsTer28
NM_001354304.2:c.1180_1181del NP_001341233.1:p.Asp394CysfsTer28
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