Canonical Allele Identifier: CA2673572758
Gene: NIPBL-DT HGNC NCBI

Linked Data

gnomAD v4: 5-36876644-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876644C>T , CM000667.2:g.36876644C>T GRCh38
NC_000005.9:g.36876746C>T , CM000667.1:g.36876746C>T GRCh37
NC_000005.8:g.36912503C>T NCBI36
NG_006987.1:g.4762C>T
NG_006987.2:g.4762C>T

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.51G>A
Search 100 bp 5'
Search 100 bp 3'