Canonical Allele Identifier: CA1075102134
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs1745053926
gnomAD v3: 5-36876530-T-A
gnomAD v4: 5-36876530-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876530T>A , CM000667.2:g.36876530T>A GRCh38
NC_000005.9:g.36876632T>A , CM000667.1:g.36876632T>A GRCh37
NC_000005.8:g.36912389T>A NCBI36
NG_006987.1:g.4648T>A
NG_006987.2:g.4648T>A

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.165A>T
Search 100 bp 5'
Search 100 bp 3'