Canonical Allele Identifier: CA2815263144
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643931A>T , CM000682.2:g.10643931A>T GRCh38
NC_000020.10:g.10624579A>T , CM000682.1:g.10624579A>T GRCh37
NC_000020.9:g.10572579A>T NCBI36
NG_007496.1:g.35116T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-68T>A MANE Select ENSP00000254958.4:n.2373-68T>A
ENST00000617965.2:n.2962-68T>A
ENST00000254958.9:c.2373-68T>A ENSP00000254958.4:n.2373-68T>A
ENST00000423891.6:n.2239-68T>A
NM_000214.2:c.2373-68T>A NP_000205.1:n.2373-68T>A
NM_000214.3:c.2373-68T>A MANE Select NP_000205.1:n.2373-68T>A
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