Canonical Allele Identifier: CA408239247
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652493G>T , CM000682.2:g.10652493G>T GRCh38
NC_000020.10:g.10633141G>T , CM000682.1:g.10633141G>T GRCh37
NC_000020.9:g.10581141G>T NCBI36
NG_007496.1:g.26554C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.861C>A MANE Select ENSP00000254958.4:p.Asn287Lys
ENST00000617965.2:n.230C>A
ENST00000254958.9:c.861C>A ENSP00000254958.4:p.Asn287Lys
ENST00000423891.6:n.727C>A
ENST00000617965.1:n.230C>A
NM_000214.2:c.861C>A NP_000205.1:p.Asn287Lys
NM_000214.3:c.861C>A MANE Select NP_000205.1:p.Asn287Lys