Canonical Allele Identifier: CA2349887333
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs2067377624
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656174C>T , CM000682.2:g.10656174C>T GRCh38
NC_000020.10:g.10636822C>T , CM000682.1:g.10636822C>T GRCh37
NC_000020.9:g.10584822C>T NCBI36
NG_007496.1:g.22873G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.755+224G>A MANE Select ENSP00000254958.4:n.755+224G>A
ENST00000254958.9:c.755+224G>A ENSP00000254958.4:n.755+224G>A
ENST00000423891.6:n.621+224G>A
NM_000214.2:c.755+224G>A NP_000205.1:n.755+224G>A
NM_000214.3:c.755+224G>A MANE Select NP_000205.1:n.755+224G>A
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