Canonical Allele Identifier: CA117447380
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs572246968
gnomAD v2: 5-36876712-G-T
gnomAD v3: 5-36876610-G-T
gnomAD v4: 5-36876610-G-T
MyVariant Identifiers: chr5:g.36876712G>T (hg19) chr5:g.36876610G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876610G>T , CM000667.2:g.36876610G>T GRCh38
NC_000005.9:g.36876712G>T , CM000667.1:g.36876712G>T GRCh37
NC_000005.8:g.36912469G>T NCBI36
NG_006987.1:g.4728G>T
NG_006987.2:g.4728G>T

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.85C>A
Search 100 bp 5'
Search 100 bp 3'