Canonical Allele Identifier: CA2651919637
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10673672-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673672T>A , CM000682.2:g.10673672T>A GRCh38
NC_000020.10:g.10654320T>A , CM000682.1:g.10654320T>A GRCh37
NC_000020.9:g.10602320T>A NCBI36
NG_007496.1:g.5375A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-142A>T MANE Select ENSP00000254958.4:n.-142A>T
ENST00000254958.9:c.-142A>T ENSP00000254958.4:n.-142A>T
NM_000214.2:c.-142A>T NP_000205.1:n.-142A>T
NM_000214.3:c.-142A>T MANE Select NP_000205.1:n.-142A>T
Search 100 bp 5'
Search 100 bp 3'