Canonical Allele Identifier: CA408239904
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658477A>T , CM000682.2:g.10658477A>T GRCh38
NC_000020.10:g.10639125A>T , CM000682.1:g.10639125A>T GRCh37
NC_000020.9:g.10587125A>T NCBI36
NG_007496.1:g.20570T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.685T>A MANE Select ENSP00000254958.4:p.Cys229Ser
ENST00000254958.9:c.685T>A ENSP00000254958.4:p.Cys229Ser
ENST00000423891.6:n.551T>A
NM_000214.2:c.685T>A NP_000205.1:p.Cys229Ser
NM_000214.3:c.685T>A MANE Select NP_000205.1:p.Cys229Ser