Canonical Allele Identifier: CA2577338118
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644772A>G , CM000682.2:g.10644772A>G GRCh38
NC_000020.10:g.10625420A>G , CM000682.1:g.10625420A>G GRCh37
NC_000020.9:g.10573420A>G NCBI36
NG_007496.1:g.34275T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+91T>C MANE Select ENSP00000254958.4:n.2344+91T>C
ENST00000617965.2:n.2933+91T>C
ENST00000254958.9:c.2344+91T>C ENSP00000254958.4:n.2344+91T>C
ENST00000423891.6:n.2210+91T>C
ENST00000488480.2:n.832T>C
NM_000214.2:c.2344+91T>C NP_000205.1:n.2344+91T>C
NM_000214.3:c.2344+91T>C MANE Select NP_000205.1:n.2344+91T>C