Canonical Allele Identifier: CA2651919517
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673579C>T , CM000682.2:g.10673579C>T GRCh38
NC_000020.10:g.10654227C>T , CM000682.1:g.10654227C>T GRCh37
NC_000020.9:g.10602227C>T NCBI36
NG_007496.1:g.5468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-49G>A MANE Select ENSP00000254958.4:n.-49G>A
ENST00000254958.9:c.-49G>A ENSP00000254958.4:n.-49G>A
NM_000214.2:c.-49G>A NP_000205.1:n.-49G>A
NM_000214.3:c.-49G>A MANE Select NP_000205.1:n.-49G>A