Canonical Allele Identifier: CA2815263225

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10643986A>C , CM000682.2:g.10643986A>C	GRCh38
NC_000020.10:g.10624634A>C , CM000682.1:g.10624634A>C	GRCh37
NC_000020.9:g.10572634A>C	NCBI36
NG_007496.1:g.35061T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2373-123T>G MANE Select	ENSP00000254958.4:n.2373-123T>G
ENST00000617965.2:n.2962-123T>G
ENST00000254958.9:c.2373-123T>G	ENSP00000254958.4:n.2373-123T>G
ENST00000423891.6:n.2239-123T>G
NM_000214.2:c.2373-123T>G	NP_000205.1:n.2373-123T>G
NM_000214.3:c.2373-123T>G MANE Select	NP_000205.1:n.2373-123T>G