Canonical Allele Identifier: CA2577338507
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10656359-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656359A>T , CM000682.2:g.10656359A>T GRCh38
NC_000020.10:g.10637007A>T , CM000682.1:g.10637007A>T GRCh37
NC_000020.9:g.10585007A>T NCBI36
NG_007496.1:g.22688T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.755+39T>A MANE Select ENSP00000254958.4:n.755+39T>A
ENST00000254958.9:c.755+39T>A ENSP00000254958.4:n.755+39T>A
ENST00000423891.6:n.621+39T>A
NM_000214.2:c.755+39T>A NP_000205.1:n.755+39T>A
NM_000214.3:c.755+39T>A MANE Select NP_000205.1:n.755+39T>A
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