Canonical Allele Identifier: CA408240683
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10658713-C-T
MyVariant Identifiers: chr20:g.10639361C>T (hg19) chr20:g.10658713C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658713C>T , CM000682.2:g.10658713C>T GRCh38
NC_000020.10:g.10639361C>T , CM000682.1:g.10639361C>T GRCh37
NC_000020.9:g.10587361C>T NCBI36
NG_007496.1:g.20334G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.449G>A MANE Select ENSP00000254958.4:p.Ser150Asn
ENST00000254958.9:c.449G>A ENSP00000254958.4:p.Ser150Asn
ENST00000423891.6:n.315G>A
NM_000214.2:c.449G>A NP_000205.1:p.Ser150Asn
NM_000214.3:c.449G>A MANE Select NP_000205.1:p.Ser150Asn
Search 100 bp 5'
Search 100 bp 3'