Canonical Allele Identifier: CA810266561
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs572246968
gnomAD v3: 5-36876610-G-C
gnomAD v4: 5-36876610-G-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.85C>G