Canonical Allele Identifier: CA408238566
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650339T>G , CM000682.2:g.10650339T>G GRCh38
NC_000020.10:g.10630987T>G , CM000682.1:g.10630987T>G GRCh37
NC_000020.9:g.10578987T>G NCBI36
NG_007496.1:g.28708A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1142A>C MANE Select ENSP00000254958.4:p.Asn381Thr
ENST00000617965.2:n.1731A>C
ENST00000254958.9:c.1142A>C ENSP00000254958.4:p.Asn381Thr
ENST00000423891.6:n.1008A>C
NM_000214.2:c.1142A>C NP_000205.1:p.Asn381Thr
NM_000214.3:c.1142A>C MANE Select NP_000205.1:p.Asn381Thr