Canonical Allele Identifier: CA1075102135

Gene: NIPBL-DT

Linked Data

• dbSNP Id: rs1745054054
• gnomAD v3: 5-36876534-A-G
• gnomAD v4: 5-36876534-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876534A>G , CM000667.2:g.36876534A>G	GRCh38
NC_000005.9:g.36876636A>G , CM000667.1:g.36876636A>G	GRCh37
NC_000005.8:g.36912393A>G	NCBI36
NG_006987.1:g.4652A>G
NG_006987.2:g.4652A>G

Transcript Alleles

HGVS	Amino-acid Change
NR_046262.1:n.161T>C