Canonical Allele Identifier: CA1539536747
Gene: NIPBL-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876614G= , CM000667.2:g.36876614G= GRCh38
NC_000005.9:g.36876716G= , CM000667.1:g.36876716G= GRCh37
NC_000005.8:g.36912473G= NCBI36
NG_006987.1:g.4732G=
NG_006987.2:g.4732G=

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.81C=