Canonical Allele Identifier: CA2349888418
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658604G= , CM000682.2:g.10658604G= GRCh38
NC_000020.10:g.10639252G= , CM000682.1:g.10639252G= GRCh37
NC_000020.9:g.10587252G= NCBI36
NG_007496.1:g.20443C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.558C= MANE Select ENSP00000254958.4:p.Thr186=
ENST00000254958.9:c.558C= ENSP00000254958.4:p.Thr186=
ENST00000423891.6:n.424C=
NM_000214.2:c.558C= NP_000205.1:p.Thr186=
NM_000214.3:c.558C= MANE Select NP_000205.1:p.Thr186=
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