Canonical Allele Identifier: CA1539536681
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs973531965

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876579G>T , CM000667.2:g.36876579G>T GRCh38
NC_000005.9:g.36876681G>T , CM000667.1:g.36876681G>T GRCh37
NC_000005.8:g.36912438G>T NCBI36
NG_006987.1:g.4697G>T
NG_006987.2:g.4697G>T

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.116C>A