Canonical Allele Identifier: CA2815262810

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658800A>C , CM000682.2:g.10658800A>C	GRCh38
NC_000020.10:g.10639448A>C , CM000682.1:g.10639448A>C	GRCh37
NC_000020.9:g.10587448A>C	NCBI36
NG_007496.1:g.20247T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.440-78T>G MANE Select	ENSP00000254958.4:n.440-78T>G
ENST00000254958.9:c.440-78T>G	ENSP00000254958.4:n.440-78T>G
ENST00000423891.6:n.306-78T>G
NM_000214.2:c.440-78T>G	NP_000205.1:n.440-78T>G
NM_000214.3:c.440-78T>G MANE Select	NP_000205.1:n.440-78T>G