Canonical Allele Identifier: CA2651919786
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10673837-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673837T>C , CM000682.2:g.10673837T>C GRCh38
NC_000020.10:g.10654485T>C , CM000682.1:g.10654485T>C GRCh37
NC_000020.9:g.10602485T>C NCBI36
NG_007496.1:g.5210A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-307A>G MANE Select ENSP00000254958.4:n.-307A>G
ENST00000254958.9:c.-307A>G ENSP00000254958.4:n.-307A>G
NM_000214.2:c.-307A>G NP_000205.1:n.-307A>G
NM_000214.3:c.-307A>G MANE Select NP_000205.1:n.-307A>G
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Search 100 bp 3'