Canonical Allele Identifier: CA509816573
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs375199216
gnomAD v3: 20-10658610-G-T
gnomAD v4: 20-10658610-G-T
MyVariant Identifiers: chr20:g.10639258G>T (hg19) chr20:g.10658610G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658610G>T , CM000682.2:g.10658610G>T GRCh38
NC_000020.10:g.10639258G>T , CM000682.1:g.10639258G>T GRCh37
NC_000020.9:g.10587258G>T NCBI36
NG_007496.1:g.20437C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.552C>A MANE Select ENSP00000254958.4:p.Arg184=
ENST00000254958.9:c.552C>A ENSP00000254958.4:p.Arg184=
ENST00000423891.6:n.418C>A
NM_000214.2:c.552C>A NP_000205.1:p.Arg184=
NM_000214.3:c.552C>A MANE Select NP_000205.1:p.Arg184=
Search 100 bp 5'
Search 100 bp 3'