Canonical Allele Identifier: CA509816410
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs2067393373
MyVariant Identifiers: chr20:g.10639183G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658535G>A , CM000682.2:g.10658535G>A GRCh38
NC_000020.10:g.10639183G>A , CM000682.1:g.10639183G>A GRCh37
NC_000020.9:g.10587183G>A NCBI36
NG_007496.1:g.20512C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.627C>T MANE Select ENSP00000254958.4:p.His209=
ENST00000254958.9:c.627C>T ENSP00000254958.4:p.His209=
ENST00000423891.6:n.493C>T
NM_000214.2:c.627C>T NP_000205.1:p.His209=
NM_000214.3:c.627C>T MANE Select NP_000205.1:p.His209=
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