Canonical Allele Identifier: CA810266531
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs1279622554
gnomAD v3: 5-36876576-G-T
gnomAD v4: 5-36876576-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876576G>T , CM000667.2:g.36876576G>T GRCh38
NC_000005.9:g.36876678G>T , CM000667.1:g.36876678G>T GRCh37
NC_000005.8:g.36912435G>T NCBI36
NG_006987.1:g.4694G>T
NG_006987.2:g.4694G>T

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.119C>A