Canonical Allele Identifier: CA2651916408
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10650241-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650241T>G , CM000682.2:g.10650241T>G GRCh38
NC_000020.10:g.10630889T>G , CM000682.1:g.10630889T>G GRCh37
NC_000020.9:g.10578889T>G NCBI36
NG_007496.1:g.28806A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1234+6A>C MANE Select ENSP00000254958.4:n.1234+6A>C
ENST00000617965.2:n.1823+6A>C
ENST00000254958.9:c.1234+6A>C ENSP00000254958.4:n.1234+6A>C
ENST00000423891.6:n.1100+6A>C
ENST00000622545.1:c.11+6A>C
NM_000214.2:c.1234+6A>C NP_000205.1:n.1234+6A>C
NM_000214.3:c.1234+6A>C MANE Select NP_000205.1:n.1234+6A>C
Search 100 bp 5'
Search 100 bp 3'