Canonical Allele Identifier: CA408239803
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656428T>G , CM000682.2:g.10656428T>G GRCh38
NC_000020.10:g.10637076T>G , CM000682.1:g.10637076T>G GRCh37
NC_000020.9:g.10585076T>G NCBI36
NG_007496.1:g.22619A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.725A>C MANE Select ENSP00000254958.4:p.His242Pro
ENST00000254958.9:c.725A>C ENSP00000254958.4:p.His242Pro
ENST00000423891.6:n.591A>C
NM_000214.2:c.725A>C NP_000205.1:p.His242Pro
NM_000214.3:c.725A>C MANE Select NP_000205.1:p.His242Pro