Canonical Allele Identifier: CA509816464
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs2122623638
gnomAD v4: 20-10658583-G-C
MyVariant Identifiers: chr20:g.10639231G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658583G>C , CM000682.2:g.10658583G>C GRCh38
NC_000020.10:g.10639231G>C , CM000682.1:g.10639231G>C GRCh37
NC_000020.9:g.10587231G>C NCBI36
NG_007496.1:g.20464C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.579C>G MANE Select ENSP00000254958.4:p.Gly193=
ENST00000254958.9:c.579C>G ENSP00000254958.4:p.Gly193=
ENST00000423891.6:n.445C>G
NM_000214.2:c.579C>G NP_000205.1:p.Gly193=
NM_000214.3:c.579C>G MANE Select NP_000205.1:p.Gly193=
Search 100 bp 5'
Search 100 bp 3'