Canonical Allele Identifier: CA1539536796
Gene: NIPBL-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876639G= , CM000667.2:g.36876639G= GRCh38
NC_000005.9:g.36876741G= , CM000667.1:g.36876741G= GRCh37
NC_000005.8:g.36912498G= NCBI36
NG_006987.1:g.4757G=
NG_006987.2:g.4757G=

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.56C=