Canonical Allele Identifier: CA2059446772
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843755_102843756delinsGC , CM000674.2:g.102843755_102843756delinsGC GRCh38
NC_000012.11:g.103237533_103237534delinsGC , CM000674.1:g.103237533_103237534delinsGC GRCh37
NC_000012.10:g.101761663_101761664delinsGC NCBI36
NG_008690.1:g.78847_78848delinsGC
NG_008690.2:g.119655_119656delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1089_1090delinsGC MANE Select ENSP00000448059.1:p.Lys363=
ENST00000307000.7:c.1074_1075delinsGC ENSP00000303500.2:p.Lys358=
ENST00000549247.6:n.848_849delinsGC
ENST00000551114.2:n.751_752delinsGC
ENST00000553106.5:c.1089_1090delinsGC ENSP00000448059.1:p.Lys363=
ENST00000635477.1:c.193_194delinsGC
ENST00000635528.1:n.604_605delinsGC
NM_000277.1:c.1089_1090delinsGC NP_000268.1:p.Lys363=
XM_011538422.1:c.1032_1033delinsGC XP_011536724.1:p.Lys344=
NM_000277.2:c.1089_1090delinsGC NP_000268.1:p.Lys363=
NM_001354304.1:c.1089_1090delinsGC NP_001341233.1:p.Lys363=
NM_000277.3:c.1089_1090delinsGC MANE Select NP_000268.1:p.Lys363=
NM_001354304.2:c.1089_1090delinsGC NP_001341233.1:p.Lys363=
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