Canonical Allele Identifier: CA2765908564
Gene: NIPBL-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876612T>A , CM000667.2:g.36876612T>A GRCh38
NC_000005.9:g.36876714T>A , CM000667.1:g.36876714T>A GRCh37
NC_000005.8:g.36912471T>A NCBI36
NG_006987.1:g.4730T>A
NG_006987.2:g.4730T>A

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.83A>T