Canonical Allele Identifier: CA408238578
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10630993G>C (hg19) chr20:g.10650345G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650345G>C , CM000682.2:g.10650345G>C GRCh38
NC_000020.10:g.10630993G>C , CM000682.1:g.10630993G>C GRCh37
NC_000020.9:g.10578993G>C NCBI36
NG_007496.1:g.28702C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1136C>G MANE Select ENSP00000254958.4:p.Ser379Cys
ENST00000617965.2:n.1725C>G
ENST00000254958.9:c.1136C>G ENSP00000254958.4:p.Ser379Cys
ENST00000423891.6:n.1002C>G
NM_000214.2:c.1136C>G NP_000205.1:p.Ser379Cys
NM_000214.3:c.1136C>G MANE Select NP_000205.1:p.Ser379Cys
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