Canonical Allele Identifier: CA2349888384
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658480C= , CM000682.2:g.10658480C= GRCh38
NC_000020.10:g.10639128C= , CM000682.1:g.10639128C= GRCh37
NC_000020.9:g.10587128C= NCBI36
NG_007496.1:g.20567G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.682G= MANE Select ENSP00000254958.4:p.Glu228=
ENST00000254958.9:c.682G= ENSP00000254958.4:p.Glu228=
ENST00000423891.6:n.548G=
NM_000214.2:c.682G= NP_000205.1:p.Glu228=
NM_000214.3:c.682G= MANE Select NP_000205.1:p.Glu228=