Canonical Allele Identifier: CA9764843
Community Standard Title: NM_000214.3(JAG1):c.1439C>T (p.Ala480Val)
Gene: JAG1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10648679G>A , CM000682.2:g.10648679G>A GRCh38
NC_000020.10:g.10629327G>A , CM000682.1:g.10629327G>A GRCh37
NC_000020.9:g.10577327G>A NCBI36
NG_007496.1:g.30368C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000214.3:c.1439C>T MANE Select NP_000205.1:p.Ala480Val
ENST00000254958.10:c.1439C>T MANE Select ENSP00000254958.4:p.Ala480Val
NM_000214.2:c.1439C>T NP_000205.1:p.Ala480Val
ENST00000254958.9:c.1439C>T ENSP00000254958.4:p.Ala480Val
ENST00000423891.6:n.1305C>T
ENST00000617965.2:n.2028C>T
ENST00000620743.1:n.496C>T
ENST00000622545.1:c.173-3C>T
Search 100 bp 5'
Search 100 bp 3'