Canonical Allele Identifier: CA2651919713
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10673750-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673750T>G , CM000682.2:g.10673750T>G GRCh38
NC_000020.10:g.10654398T>G , CM000682.1:g.10654398T>G GRCh37
NC_000020.9:g.10602398T>G NCBI36
NG_007496.1:g.5297A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-220A>C MANE Select ENSP00000254958.4:n.-220A>C
ENST00000254958.9:c.-220A>C ENSP00000254958.4:n.-220A>C
NM_000214.2:c.-220A>C NP_000205.1:n.-220A>C
NM_000214.3:c.-220A>C MANE Select NP_000205.1:n.-220A>C
Search 100 bp 5'
Search 100 bp 3'