Canonical Allele Identifier: CA408239908
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658479T>C , CM000682.2:g.10658479T>C GRCh38
NC_000020.10:g.10639127T>C , CM000682.1:g.10639127T>C GRCh37
NC_000020.9:g.10587127T>C NCBI36
NG_007496.1:g.20568A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.683A>G MANE Select ENSP00000254958.4:p.Glu228Gly
ENST00000254958.9:c.683A>G ENSP00000254958.4:p.Glu228Gly
ENST00000423891.6:n.549A>G
NM_000214.2:c.683A>G NP_000205.1:p.Glu228Gly
NM_000214.3:c.683A>G MANE Select NP_000205.1:p.Glu228Gly