Canonical Allele Identifier: CA408235044
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10625610G>T (hg19) chr20:g.10644962G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644962G>T , CM000682.2:g.10644962G>T GRCh38
NC_000020.10:g.10625610G>T , CM000682.1:g.10625610G>T GRCh37
NC_000020.9:g.10573610G>T NCBI36
NG_007496.1:g.34085C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2245C>A MANE Select ENSP00000254958.4:p.Leu749Met
ENST00000617965.2:n.2834C>A
ENST00000254958.9:c.2245C>A ENSP00000254958.4:p.Leu749Met
ENST00000423891.6:n.2111C>A
ENST00000488480.2:n.642C>A
NM_000214.2:c.2245C>A NP_000205.1:p.Leu749Met
NM_000214.3:c.2245C>A MANE Select NP_000205.1:p.Leu749Met
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