Canonical Allele Identifier: CA2815263933

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644647A>T , CM000682.2:g.10644647A>T	GRCh38
NC_000020.10:g.10625295A>T , CM000682.1:g.10625295A>T	GRCh37
NC_000020.9:g.10573295A>T	NCBI36
NG_007496.1:g.34400T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2344+216T>A MANE Select	ENSP00000254958.4:n.2344+216T>A
ENST00000617965.2:n.2933+216T>A
ENST00000254958.9:c.2344+216T>A	ENSP00000254958.4:n.2344+216T>A
ENST00000423891.6:n.2210+216T>A
ENST00000488480.2:n.957T>A
NM_000214.2:c.2344+216T>A	NP_000205.1:n.2344+216T>A
NM_000214.3:c.2344+216T>A MANE Select	NP_000205.1:n.2344+216T>A