Canonical Allele Identifier: CA2547742084
Gene: NIPBL-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876528G>C , CM000667.2:g.36876528G>C GRCh38
NC_000005.9:g.36876630G>C , CM000667.1:g.36876630G>C GRCh37
NC_000005.8:g.36912387G>C NCBI36
NG_006987.1:g.4646G>C
NG_006987.2:g.4646G>C

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.167C>G