Canonical Allele Identifier: CA408234843
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10625514G>T (hg19) chr20:g.10644866G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644866G>T , CM000682.2:g.10644866G>T GRCh38
NC_000020.10:g.10625514G>T , CM000682.1:g.10625514G>T GRCh37
NC_000020.9:g.10573514G>T NCBI36
NG_007496.1:g.34181C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2341C>A MANE Select ENSP00000254958.4:p.Gln781Lys
ENST00000617965.2:n.2930C>A
ENST00000254958.9:c.2341C>A ENSP00000254958.4:p.Gln781Lys
ENST00000423891.6:n.2207C>A
ENST00000488480.2:n.738C>A
NM_000214.2:c.2341C>A NP_000205.1:p.Gln781Lys
NM_000214.3:c.2341C>A MANE Select NP_000205.1:p.Gln781Lys
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