Canonical Allele Identifier: CA408239888
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658471T>A , CM000682.2:g.10658471T>A GRCh38
NC_000020.10:g.10639119T>A , CM000682.1:g.10639119T>A GRCh37
NC_000020.9:g.10587119T>A NCBI36
NG_007496.1:g.20576A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.691A>T MANE Select ENSP00000254958.4:p.Arg231Ter
ENST00000254958.9:c.691A>T ENSP00000254958.4:p.Arg231Ter
ENST00000423891.6:n.557A>T
NM_000214.2:c.691A>T NP_000205.1:p.Arg231Ter
NM_000214.3:c.691A>T MANE Select NP_000205.1:p.Arg231Ter