Canonical Allele Identifier: CA2651919627
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10673663-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673663A>C , CM000682.2:g.10673663A>C GRCh38
NC_000020.10:g.10654311A>C , CM000682.1:g.10654311A>C GRCh37
NC_000020.9:g.10602311A>C NCBI36
NG_007496.1:g.5384T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-133T>G MANE Select ENSP00000254958.4:n.-133T>G
ENST00000254958.9:c.-133T>G ENSP00000254958.4:n.-133T>G
NM_000214.2:c.-133T>G NP_000205.1:n.-133T>G
NM_000214.3:c.-133T>G MANE Select NP_000205.1:n.-133T>G
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