Canonical Allele Identifier: CA1539536778
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs943289079

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876625C>G , CM000667.2:g.36876625C>G GRCh38
NC_000005.9:g.36876727C>G , CM000667.1:g.36876727C>G GRCh37
NC_000005.8:g.36912484C>G NCBI36
NG_006987.1:g.4743C>G
NG_006987.2:g.4743C>G

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.70G>C