Canonical Allele Identifier: CA117447376
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs973531965
gnomAD v2: 5-36876681-G-A
gnomAD v3: 5-36876579-G-A
gnomAD v4: 5-36876579-G-A
MyVariant Identifiers: chr5:g.36876681G>A (hg19) chr5:g.36876579G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876579G>A , CM000667.2:g.36876579G>A GRCh38
NC_000005.9:g.36876681G>A , CM000667.1:g.36876681G>A GRCh37
NC_000005.8:g.36912438G>A NCBI36
NG_006987.1:g.4697G>A
NG_006987.2:g.4697G>A

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.116C>T
Search 100 bp 5'
Search 100 bp 3'