Canonical Allele Identifier: CA117447374
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs534928425
gnomAD v2: 5-36876643-G-C
gnomAD v3: 5-36876541-G-C
gnomAD v4: 5-36876541-G-C
MyVariant Identifiers: chr5:g.36876643G>C (hg19) chr5:g.36876541G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876541G>C , CM000667.2:g.36876541G>C GRCh38
NC_000005.9:g.36876643G>C , CM000667.1:g.36876643G>C GRCh37
NC_000005.8:g.36912400G>C NCBI36
NG_006987.1:g.4659G>C
NG_006987.2:g.4659G>C

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.154C>G
Search 100 bp 5'
Search 100 bp 3'