Canonical Allele Identifier: CA2651913754
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644009T>C , CM000682.2:g.10644009T>C GRCh38
NC_000020.10:g.10624657T>C , CM000682.1:g.10624657T>C GRCh37
NC_000020.9:g.10572657T>C NCBI36
NG_007496.1:g.35038A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-146A>G MANE Select ENSP00000254958.4:n.2373-146A>G
ENST00000617965.2:n.2962-146A>G
ENST00000254958.9:c.2373-146A>G ENSP00000254958.4:n.2373-146A>G
ENST00000423891.6:n.2239-146A>G
NM_000214.2:c.2373-146A>G NP_000205.1:n.2373-146A>G
NM_000214.3:c.2373-146A>G MANE Select NP_000205.1:n.2373-146A>G