Canonical Allele Identifier: CA117447375
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs546632451
gnomAD v2: 5-36876670-C-T
gnomAD v3: 5-36876568-C-T
gnomAD v4: 5-36876568-C-T
MyVariant Identifiers: chr5:g.36876670C>T (hg19) chr5:g.36876568C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876568C>T , CM000667.2:g.36876568C>T GRCh38
NC_000005.9:g.36876670C>T , CM000667.1:g.36876670C>T GRCh37
NC_000005.8:g.36912427C>T NCBI36
NG_006987.1:g.4686C>T
NG_006987.2:g.4686C>T

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.127G>A
Search 100 bp 5'
Search 100 bp 3'