Canonical Allele Identifier: CA408243949
Community Standard Title: NM_000214.3(JAG1):c.82G>T (p.Val28Leu)
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673006C>A , CM000682.2:g.10673006C>A GRCh38
NC_000020.10:g.10653654C>A , CM000682.1:g.10653654C>A GRCh37
NC_000020.9:g.10601654C>A NCBI36
NG_007496.1:g.6041G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000214.3:c.82G>T MANE Select NP_000205.1:p.Val28Leu
ENST00000254958.10:c.82G>T MANE Select ENSP00000254958.4:p.Val28Leu
NM_000214.2:c.82G>T NP_000205.1:p.Val28Leu
ENST00000254958.9:c.82G>T ENSP00000254958.4:p.Val28Leu
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