Canonical Allele Identifier: CA408239910
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1286744339

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658480C>T , CM000682.2:g.10658480C>T GRCh38
NC_000020.10:g.10639128C>T , CM000682.1:g.10639128C>T GRCh37
NC_000020.9:g.10587128C>T NCBI36
NG_007496.1:g.20567G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.682G>A MANE Select ENSP00000254958.4:p.Glu228Lys
ENST00000254958.9:c.682G>A ENSP00000254958.4:p.Glu228Lys
ENST00000423891.6:n.548G>A
NM_000214.2:c.682G>A NP_000205.1:p.Glu228Lys
NM_000214.3:c.682G>A MANE Select NP_000205.1:p.Glu228Lys