Canonical Allele Identifier: CA408240028
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2789336
ClinVar RCV Id: RCV003620028
MyVariant Identifiers: chr20:g.10639175C>T (hg19) chr20:g.10658527C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658527C>T , CM000682.2:g.10658527C>T GRCh38
NC_000020.10:g.10639175C>T , CM000682.1:g.10639175C>T GRCh37
NC_000020.9:g.10587175C>T NCBI36
NG_007496.1:g.20520G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.635G>A MANE Select ENSP00000254958.4:p.Cys212Tyr
ENST00000254958.9:c.635G>A ENSP00000254958.4:p.Cys212Tyr
ENST00000423891.6:n.501G>A
NM_000214.2:c.635G>A NP_000205.1:p.Cys212Tyr
NM_000214.3:c.635G>A MANE Select NP_000205.1:p.Cys212Tyr
Search 100 bp 5'
Search 100 bp 3'