Canonical Allele Identifier: CA9764801
Community Standard Title: NM_000214.3(JAG1):c.1628G>A (p.Arg543His)
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10648052C>T , CM000682.2:g.10648052C>T GRCh38
NC_000020.10:g.10628700C>T , CM000682.1:g.10628700C>T GRCh37
NC_000020.9:g.10576700C>T NCBI36
NG_007496.1:g.30995G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000214.3:c.1628G>A MANE Select NP_000205.1:p.Arg543His
ENST00000254958.10:c.1628G>A MANE Select ENSP00000254958.4:p.Arg543His
NM_000214.2:c.1628G>A NP_000205.1:p.Arg543His
ENST00000254958.9:c.1628G>A ENSP00000254958.4:p.Arg543His
ENST00000423891.6:n.1494G>A
ENST00000617965.2:n.2217G>A
ENST00000620743.1:n.685G>A
ENST00000622545.1:c.359G>A
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