Canonical Allele Identifier: CA2349888402
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658545A= , CM000682.2:g.10658545A= GRCh38
NC_000020.10:g.10639193A= , CM000682.1:g.10639193A= GRCh37
NC_000020.9:g.10587193A= NCBI36
NG_007496.1:g.20502T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.617T= MANE Select ENSP00000254958.4:p.Phe206=
ENST00000254958.9:c.617T= ENSP00000254958.4:p.Phe206=
ENST00000423891.6:n.483T=
NM_000214.2:c.617T= NP_000205.1:p.Phe206=
NM_000214.3:c.617T= MANE Select NP_000205.1:p.Phe206=