Canonical Allele Identifier: CA2651919610
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10673650-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673650C>A , CM000682.2:g.10673650C>A GRCh38
NC_000020.10:g.10654298C>A , CM000682.1:g.10654298C>A GRCh37
NC_000020.9:g.10602298C>A NCBI36
NG_007496.1:g.5397G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-120G>T MANE Select ENSP00000254958.4:n.-120G>T
ENST00000254958.9:c.-120G>T ENSP00000254958.4:n.-120G>T
NM_000214.2:c.-120G>T NP_000205.1:n.-120G>T
NM_000214.3:c.-120G>T MANE Select NP_000205.1:n.-120G>T
Search 100 bp 5'
Search 100 bp 3'