Canonical Allele Identifier: CA408239932
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658489T>C , CM000682.2:g.10658489T>C GRCh38
NC_000020.10:g.10639137T>C , CM000682.1:g.10639137T>C GRCh37
NC_000020.9:g.10587137T>C NCBI36
NG_007496.1:g.20558A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.673A>G MANE Select ENSP00000254958.4:p.Met225Val
ENST00000254958.9:c.673A>G ENSP00000254958.4:p.Met225Val
ENST00000423891.6:n.539A>G
NM_000214.2:c.673A>G NP_000205.1:p.Met225Val
NM_000214.3:c.673A>G MANE Select NP_000205.1:p.Met225Val