Canonical Allele Identifier: CA2059446391
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843664_102843665delinsTC , CM000674.2:g.102843664_102843665delinsTC GRCh38
NC_000012.11:g.103237442_103237443delinsTC , CM000674.1:g.103237442_103237443delinsTC GRCh37
NC_000012.10:g.101761572_101761573delinsTC NCBI36
NG_008690.1:g.78938_78939delinsGA
NG_008690.2:g.119746_119747delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1180_1181delinsGA MANE Select ENSP00000448059.1:p.Asp394=
ENST00000307000.7:c.1165_1166delinsGA ENSP00000303500.2:p.Asp389=
ENST00000549247.6:n.939_940delinsGA
ENST00000551114.2:n.842_843delinsGA
ENST00000553106.5:c.1180_1181delinsGA ENSP00000448059.1:p.Asp394=
ENST00000635477.1:c.284_285delinsGA
ENST00000635528.1:n.695_696delinsGA
NM_000277.1:c.1180_1181delinsGA NP_000268.1:p.Asp394=
XM_011538422.1:c.1123_1124delinsGA XP_011536724.1:p.Asp375=
NM_000277.2:c.1180_1181delinsGA NP_000268.1:p.Asp394=
NM_001354304.1:c.1180_1181delinsGA NP_001341233.1:p.Asp394=
NM_000277.3:c.1180_1181delinsGA MANE Select NP_000268.1:p.Asp394=
NM_001354304.2:c.1180_1181delinsGA NP_001341233.1:p.Asp394=
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