Canonical Allele Identifier: CA2815262305
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658240C>T , CM000682.2:g.10658240C>T GRCh38
NC_000020.10:g.10638888C>T , CM000682.1:g.10638888C>T GRCh37
NC_000020.9:g.10586888C>T NCBI36
NG_007496.1:g.20807G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.694+228G>A MANE Select ENSP00000254958.4:n.694+228G>A
ENST00000254958.9:c.694+228G>A ENSP00000254958.4:n.694+228G>A
ENST00000423891.6:n.560+228G>A
NM_000214.2:c.694+228G>A NP_000205.1:n.694+228G>A
NM_000214.3:c.694+228G>A MANE Select NP_000205.1:n.694+228G>A
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