Canonical Allele Identifier: CA117447383
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs993754978
gnomAD v3: 5-36876632-C-T
gnomAD v4: 5-36876632-C-T
MyVariant Identifiers: chr5:g.36876734C>T (hg19) chr5:g.36876632C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876632C>T , CM000667.2:g.36876632C>T GRCh38
NC_000005.9:g.36876734C>T , CM000667.1:g.36876734C>T GRCh37
NC_000005.8:g.36912491C>T NCBI36
NG_006987.1:g.4750C>T
NG_006987.2:g.4750C>T

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.63G>A
Search 100 bp 5'
Search 100 bp 3'