Canonical Allele Identifier: CA408239249
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652494T>A , CM000682.2:g.10652494T>A GRCh38
NC_000020.10:g.10633142T>A , CM000682.1:g.10633142T>A GRCh37
NC_000020.9:g.10581142T>A NCBI36
NG_007496.1:g.26553A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.860A>T MANE Select ENSP00000254958.4:p.Asn287Ile
ENST00000617965.2:n.229A>T
ENST00000254958.9:c.860A>T ENSP00000254958.4:p.Asn287Ile
ENST00000423891.6:n.726A>T
ENST00000617965.1:n.229A>T
NM_000214.2:c.860A>T NP_000205.1:p.Asn287Ile
NM_000214.3:c.860A>T MANE Select NP_000205.1:p.Asn287Ile