Canonical Allele Identifier: CA634455503
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1234039225
gnomAD v2: 20-10654304-T-C
gnomAD v4: 20-10673656-T-C
MyVariant Identifiers: chr20:g.10654304T>C (hg19) chr20:g.10673656T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673656T>C , CM000682.2:g.10673656T>C GRCh38
NC_000020.10:g.10654304T>C , CM000682.1:g.10654304T>C GRCh37
NC_000020.9:g.10602304T>C NCBI36
NG_007496.1:g.5391A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-126A>G MANE Select ENSP00000254958.4:n.-126A>G
ENST00000254958.9:c.-126A>G ENSP00000254958.4:n.-126A>G
NM_000214.2:c.-126A>G NP_000205.1:n.-126A>G
NM_000214.3:c.-126A>G MANE Select NP_000205.1:n.-126A>G
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Search 100 bp 3'