Canonical Allele Identifier: CA2673572785
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs2149510051
gnomAD v4: 5-36876661-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876661G>A , CM000667.2:g.36876661G>A GRCh38
NC_000005.9:g.36876763G>A , CM000667.1:g.36876763G>A GRCh37
NC_000005.8:g.36912520G>A NCBI36
NG_006987.1:g.4779G>A
NG_006987.2:g.4779G>A

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.34C>T
Search 100 bp 5'
Search 100 bp 3'