Canonical Allele Identifier: CA16616456
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406873
ClinVar RCV Id: RCV000476270
dbSNP Id: rs1060501351

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658619A>T , CM000682.2:g.10658619A>T GRCh38
NC_000020.10:g.10639267A>T , CM000682.1:g.10639267A>T GRCh37
NC_000020.9:g.10587267A>T NCBI36
NG_007496.1:g.20428T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.543T>A MANE Select ENSP00000254958.4:p.Tyr181Ter
ENST00000254958.9:c.543T>A ENSP00000254958.4:p.Tyr181Ter
ENST00000423891.6:n.409T>A
NM_000214.2:c.543T>A NP_000205.1:p.Tyr181Ter
NM_000214.3:c.543T>A MANE Select NP_000205.1:p.Tyr181Ter