Canonical Allele Identifier: CA810266545
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs1214331872
gnomAD v3: 5-36876604-C-T
gnomAD v4: 5-36876604-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876604C>T , CM000667.2:g.36876604C>T GRCh38
NC_000005.9:g.36876706C>T , CM000667.1:g.36876706C>T GRCh37
NC_000005.8:g.36912463C>T NCBI36
NG_006987.1:g.4722C>T
NG_006987.2:g.4722C>T

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.91G>A