Canonical Allele Identifier: CA408240260
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs2067393746

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658600C>A , CM000682.2:g.10658600C>A GRCh38
NC_000020.10:g.10639248C>A , CM000682.1:g.10639248C>A GRCh37
NC_000020.9:g.10587248C>A NCBI36
NG_007496.1:g.20447G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.562G>T MANE Select ENSP00000254958.4:p.Asp188Tyr
ENST00000254958.9:c.562G>T ENSP00000254958.4:p.Asp188Tyr
ENST00000423891.6:n.428G>T
NM_000214.2:c.562G>T NP_000205.1:p.Asp188Tyr
NM_000214.3:c.562G>T MANE Select NP_000205.1:p.Asp188Tyr