Canonical Allele Identifier: CA810266540
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs1302462628
gnomAD v3: 5-36876601-C-T
gnomAD v4: 5-36876601-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876601C>T , CM000667.2:g.36876601C>T GRCh38
NC_000005.9:g.36876703C>T , CM000667.1:g.36876703C>T GRCh37
NC_000005.8:g.36912460C>T NCBI36
NG_006987.1:g.4719C>T
NG_006987.2:g.4719C>T

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.94G>A