Canonical Allele Identifier: CA1539536718
Gene: NIPBL-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876606G= , CM000667.2:g.36876606G= GRCh38
NC_000005.9:g.36876708G= , CM000667.1:g.36876708G= GRCh37
NC_000005.8:g.36912465G= NCBI36
NG_006987.1:g.4724G=
NG_006987.2:g.4724G=

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.89C=