Canonical Allele Identifier: CA810266594
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs1292187051
gnomAD v3: 5-36876668-C-T
gnomAD v4: 5-36876668-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876668C>T , CM000667.2:g.36876668C>T GRCh38
NC_000005.9:g.36876770C>T , CM000667.1:g.36876770C>T GRCh37
NC_000005.8:g.36912527C>T NCBI36
NG_006987.1:g.4786C>T
NG_006987.2:g.4786C>T

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.27G>A