Canonical Allele Identifier: CA408239258
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652498T>C , CM000682.2:g.10652498T>C GRCh38
NC_000020.10:g.10633146T>C , CM000682.1:g.10633146T>C GRCh37
NC_000020.9:g.10581146T>C NCBI36
NG_007496.1:g.26549A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.856A>G MANE Select ENSP00000254958.4:p.Thr286Ala
ENST00000617965.2:n.225A>G
ENST00000254958.9:c.856A>G ENSP00000254958.4:p.Thr286Ala
ENST00000423891.6:n.722A>G
ENST00000617965.1:n.225A>G
NM_000214.2:c.856A>G NP_000205.1:p.Thr286Ala
NM_000214.3:c.856A>G MANE Select NP_000205.1:p.Thr286Ala