Canonical Allele Identifier: CA408234834
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644863T>A , CM000682.2:g.10644863T>A GRCh38
NC_000020.10:g.10625511T>A , CM000682.1:g.10625511T>A GRCh37
NC_000020.9:g.10573511T>A NCBI36
NG_007496.1:g.34184A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2344A>T MANE Select ENSP00000254958.4:p.Asn782Tyr
ENST00000617965.2:n.2933A>T
ENST00000254958.9:c.2344A>T ENSP00000254958.4:p.Asn782Tyr
ENST00000423891.6:n.2210A>T
ENST00000488480.2:n.741A>T
NM_000214.2:c.2344A>T NP_000205.1:p.Asn782Tyr
NM_000214.3:c.2344A>T MANE Select NP_000205.1:p.Asn782Tyr