Canonical Allele Identifier: CA509816361
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10639117T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658469T>C , CM000682.2:g.10658469T>C GRCh38
NC_000020.10:g.10639117T>C , CM000682.1:g.10639117T>C GRCh37
NC_000020.9:g.10587117T>C NCBI36
NG_007496.1:g.20578A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.693A>G MANE Select ENSP00000254958.4:p.Arg231=
ENST00000254958.9:c.693A>G ENSP00000254958.4:p.Arg231=
ENST00000423891.6:n.559A>G
NM_000214.2:c.693A>G NP_000205.1:p.Arg231=
NM_000214.3:c.693A>G MANE Select NP_000205.1:p.Arg231=