Canonical Allele Identifier: CA2349887381

Gene: JAG1

Linked Data

• dbSNP Id: rs2067378367

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10656273A>G , CM000682.2:g.10656273A>G	GRCh38
NC_000020.10:g.10636921A>G , CM000682.1:g.10636921A>G	GRCh37
NC_000020.9:g.10584921A>G	NCBI36
NG_007496.1:g.22774T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.755+125T>C MANE Select	ENSP00000254958.4:n.755+125T>C
ENST00000254958.9:c.755+125T>C	ENSP00000254958.4:n.755+125T>C
ENST00000423891.6:n.621+125T>C
NM_000214.2:c.755+125T>C	NP_000205.1:n.755+125T>C
NM_000214.3:c.755+125T>C MANE Select	NP_000205.1:n.755+125T>C