Canonical Allele Identifier: CA408239875
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658466A>C , CM000682.2:g.10658466A>C GRCh38
NC_000020.10:g.10639114A>C , CM000682.1:g.10639114A>C GRCh37
NC_000020.9:g.10587114A>C NCBI36
NG_007496.1:g.20581T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.694+2T>G MANE Select ENSP00000254958.4:n.694+2T>G
ENST00000254958.9:c.694+2T>G ENSP00000254958.4:n.694+2T>G
ENST00000423891.6:n.560+2T>G
NM_000214.2:c.694+2T>G NP_000205.1:n.694+2T>G
NM_000214.3:c.694+2T>G MANE Select NP_000205.1:n.694+2T>G