Canonical Allele Identifier: CA2815262451
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658457C>T , CM000682.2:g.10658457C>T GRCh38
NC_000020.10:g.10639105C>T , CM000682.1:g.10639105C>T GRCh37
NC_000020.9:g.10587105C>T NCBI36
NG_007496.1:g.20590G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.694+11G>A MANE Select ENSP00000254958.4:n.694+11G>A
ENST00000254958.9:c.694+11G>A ENSP00000254958.4:n.694+11G>A
ENST00000423891.6:n.560+11G>A
NM_000214.2:c.694+11G>A NP_000205.1:n.694+11G>A
NM_000214.3:c.694+11G>A MANE Select NP_000205.1:n.694+11G>A