Canonical Allele Identifier: CA2651919764
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10673814-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673814T>C , CM000682.2:g.10673814T>C GRCh38
NC_000020.10:g.10654462T>C , CM000682.1:g.10654462T>C GRCh37
NC_000020.9:g.10602462T>C NCBI36
NG_007496.1:g.5233A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-284A>G MANE Select ENSP00000254958.4:n.-284A>G
ENST00000254958.9:c.-284A>G ENSP00000254958.4:n.-284A>G
NM_000214.2:c.-284A>G NP_000205.1:n.-284A>G
NM_000214.3:c.-284A>G MANE Select NP_000205.1:n.-284A>G
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