Canonical Allele Identifier: CA408240693
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658716T>A , CM000682.2:g.10658716T>A GRCh38
NC_000020.10:g.10639364T>A , CM000682.1:g.10639364T>A GRCh37
NC_000020.9:g.10587364T>A NCBI36
NG_007496.1:g.20331A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.446A>T MANE Select ENSP00000254958.4:p.Asp149Val
ENST00000254958.9:c.446A>T ENSP00000254958.4:p.Asp149Val
ENST00000423891.6:n.312A>T
NM_000214.2:c.446A>T NP_000205.1:p.Asp149Val
NM_000214.3:c.446A>T MANE Select NP_000205.1:p.Asp149Val