Canonical Allele Identifier: CA810266528
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs1488658435
gnomAD v3: 5-36876573-G-C
gnomAD v4: 5-36876573-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876573G>C , CM000667.2:g.36876573G>C GRCh38
NC_000005.9:g.36876675G>C , CM000667.1:g.36876675G>C GRCh37
NC_000005.8:g.36912432G>C NCBI36
NG_006987.1:g.4691G>C
NG_006987.2:g.4691G>C

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.122C>G