Canonical Allele Identifier: CA408239982
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10639157T>G (hg19) chr20:g.10658509T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658509T>G , CM000682.2:g.10658509T>G GRCh38
NC_000020.10:g.10639157T>G , CM000682.1:g.10639157T>G GRCh37
NC_000020.9:g.10587157T>G NCBI36
NG_007496.1:g.20538A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.653A>C MANE Select ENSP00000254958.4:p.Lys218Thr
ENST00000254958.9:c.653A>C ENSP00000254958.4:p.Lys218Thr
ENST00000423891.6:n.519A>C
NM_000214.2:c.653A>C NP_000205.1:p.Lys218Thr
NM_000214.3:c.653A>C MANE Select NP_000205.1:p.Lys218Thr
Search 100 bp 5'
Search 100 bp 3'