Canonical Allele Identifier: CA2349888424
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658615T= , CM000682.2:g.10658615T= GRCh38
NC_000020.10:g.10639263T= , CM000682.1:g.10639263T= GRCh37
NC_000020.9:g.10587263T= NCBI36
NG_007496.1:g.20432A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.547A= MANE Select ENSP00000254958.4:p.Ile183=
ENST00000254958.9:c.547A= ENSP00000254958.4:p.Ile183=
ENST00000423891.6:n.413A=
NM_000214.2:c.547A= NP_000205.1:p.Ile183=
NM_000214.3:c.547A= MANE Select NP_000205.1:p.Ile183=