Canonical Allele Identifier: CA2815263975
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644751A>T , CM000682.2:g.10644751A>T GRCh38
NC_000020.10:g.10625399A>T , CM000682.1:g.10625399A>T GRCh37
NC_000020.9:g.10573399A>T NCBI36
NG_007496.1:g.34296T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+112T>A MANE Select ENSP00000254958.4:n.2344+112T>A
ENST00000617965.2:n.2933+112T>A
ENST00000254958.9:c.2344+112T>A ENSP00000254958.4:n.2344+112T>A
ENST00000423891.6:n.2210+112T>A
ENST00000488480.2:n.853T>A
NM_000214.2:c.2344+112T>A NP_000205.1:n.2344+112T>A
NM_000214.3:c.2344+112T>A MANE Select NP_000205.1:n.2344+112T>A
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