Canonical Allele Identifier: CA2673572771
Gene: NIPBL-DT HGNC NCBI

Linked Data

gnomAD v4: 5-36876653-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876653A>G , CM000667.2:g.36876653A>G GRCh38
NC_000005.9:g.36876755A>G , CM000667.1:g.36876755A>G GRCh37
NC_000005.8:g.36912512A>G NCBI36
NG_006987.1:g.4771A>G
NG_006987.2:g.4771A>G

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.42T>C