Canonical Allele Identifier: CA408240080
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658549C>G , CM000682.2:g.10658549C>G GRCh38
NC_000020.10:g.10639197C>G , CM000682.1:g.10639197C>G GRCh37
NC_000020.9:g.10587197C>G NCBI36
NG_007496.1:g.20498G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.613G>C MANE Select ENSP00000254958.4:p.Asp205His
ENST00000254958.9:c.613G>C ENSP00000254958.4:p.Asp205His
ENST00000423891.6:n.479G>C
NM_000214.2:c.613G>C NP_000205.1:p.Asp205His
NM_000214.3:c.613G>C MANE Select NP_000205.1:p.Asp205His