Canonical Allele Identifier: CA2673572717
Gene: NIPBL-DT HGNC NCBI

Linked Data

gnomAD v4: 5-36876612-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876612T>C , CM000667.2:g.36876612T>C GRCh38
NC_000005.9:g.36876714T>C , CM000667.1:g.36876714T>C GRCh37
NC_000005.8:g.36912471T>C NCBI36
NG_006987.1:g.4730T>C
NG_006987.2:g.4730T>C

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.83A>G