Canonical Allele Identifier: CA2673572727
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs1745058862
gnomAD v4: 5-36876621-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876621G>A , CM000667.2:g.36876621G>A GRCh38
NC_000005.9:g.36876723G>A , CM000667.1:g.36876723G>A GRCh37
NC_000005.8:g.36912480G>A NCBI36
NG_006987.1:g.4739G>A
NG_006987.2:g.4739G>A

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.74C>T
Search 100 bp 5'
Search 100 bp 3'