Canonical Allele Identifier: CA2673572750
Gene: NIPBL-DT HGNC NCBI

Linked Data

gnomAD v4: 5-36876640-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876640A>G , CM000667.2:g.36876640A>G GRCh38
NC_000005.9:g.36876742A>G , CM000667.1:g.36876742A>G GRCh37
NC_000005.8:g.36912499A>G NCBI36
NG_006987.1:g.4758A>G
NG_006987.2:g.4758A>G

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.55T>C