Canonical Allele Identifier: CA408238373
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10630900T>G (hg19) chr20:g.10650252T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650252T>G , CM000682.2:g.10650252T>G GRCh38
NC_000020.10:g.10630900T>G , CM000682.1:g.10630900T>G GRCh37
NC_000020.9:g.10578900T>G NCBI36
NG_007496.1:g.28795A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1229A>C MANE Select ENSP00000254958.4:p.Gln410Pro
ENST00000617965.2:n.1818A>C
ENST00000254958.9:c.1229A>C ENSP00000254958.4:p.Gln410Pro
ENST00000423891.6:n.1095A>C
ENST00000622545.1:c.6A>C
NM_000214.2:c.1229A>C NP_000205.1:p.Gln410Pro
NM_000214.3:c.1229A>C MANE Select NP_000205.1:p.Gln410Pro
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