Canonical Allele Identifier: CA2673572719
Gene: NIPBL-DT HGNC NCBI

Linked Data

gnomAD v4: 5-36876614-G-C

Genomic Alleles

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

Transcript Alleles

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