Canonical Allele Identifier: CA2349888383
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658473T= , CM000682.2:g.10658473T= GRCh38
NC_000020.10:g.10639121T= , CM000682.1:g.10639121T= GRCh37
NC_000020.9:g.10587121T= NCBI36
NG_007496.1:g.20574A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.689A= MANE Select ENSP00000254958.4:p.Asn230=
ENST00000254958.9:c.689A= ENSP00000254958.4:p.Asn230=
ENST00000423891.6:n.555A=
NM_000214.2:c.689A= NP_000205.1:p.Asn230=
NM_000214.3:c.689A= MANE Select NP_000205.1:p.Asn230=