Canonical Allele Identifier: CA2651919411
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10673431-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673431C>A , CM000682.2:g.10673431C>A GRCh38
NC_000020.10:g.10654079C>A , CM000682.1:g.10654079C>A GRCh37
NC_000020.9:g.10602079C>A NCBI36
NG_007496.1:g.5616G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.81+19G>T MANE Select ENSP00000254958.4:n.81+19G>T
ENST00000254958.9:c.81+19G>T ENSP00000254958.4:n.81+19G>T
NM_000214.2:c.81+19G>T NP_000205.1:n.81+19G>T
NM_000214.3:c.81+19G>T MANE Select NP_000205.1:n.81+19G>T
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