Canonical Allele Identifier: CA509816367
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1572420
ClinVar RCV Id: RCV002219742
dbSNP Id: rs2122623475
MyVariant Identifiers: chr20:g.10639126T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658478T>C , CM000682.2:g.10658478T>C GRCh38
NC_000020.10:g.10639126T>C , CM000682.1:g.10639126T>C GRCh37
NC_000020.9:g.10587126T>C NCBI36
NG_007496.1:g.20569A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.684A>G MANE Select ENSP00000254958.4:p.Glu228=
ENST00000254958.9:c.684A>G ENSP00000254958.4:p.Glu228=
ENST00000423891.6:n.550A>G
NM_000214.2:c.684A>G NP_000205.1:p.Glu228=
NM_000214.3:c.684A>G MANE Select NP_000205.1:p.Glu228=
Search 100 bp 5'
Search 100 bp 3'