Canonical Allele Identifier: CA2815262749

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658781T>G , CM000682.2:g.10658781T>G	GRCh38
NC_000020.10:g.10639429T>G , CM000682.1:g.10639429T>G	GRCh37
NC_000020.9:g.10587429T>G	NCBI36
NG_007496.1:g.20266A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.440-59A>C MANE Select	ENSP00000254958.4:n.440-59A>C
ENST00000254958.9:c.440-59A>C	ENSP00000254958.4:n.440-59A>C
ENST00000423891.6:n.306-59A>C
NM_000214.2:c.440-59A>C	NP_000205.1:n.440-59A>C
NM_000214.3:c.440-59A>C MANE Select	NP_000205.1:n.440-59A>C