Canonical Allele Identifier: CA408239797
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656426C>G , CM000682.2:g.10656426C>G GRCh38
NC_000020.10:g.10637074C>G , CM000682.1:g.10637074C>G GRCh37
NC_000020.9:g.10585074C>G NCBI36
NG_007496.1:g.22621G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.727G>C MANE Select ENSP00000254958.4:p.Gly243Arg
ENST00000254958.9:c.727G>C ENSP00000254958.4:p.Gly243Arg
ENST00000423891.6:n.593G>C
NM_000214.2:c.727G>C NP_000205.1:p.Gly243Arg
NM_000214.3:c.727G>C MANE Select NP_000205.1:p.Gly243Arg