Canonical Allele Identifier: CA1075102147

Gene: NIPBL-DT

Linked Data

• dbSNP Id: rs1745054985
• gnomAD v3: 5-36876565-C-T
• gnomAD v4: 5-36876565-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876565C>T , CM000667.2:g.36876565C>T	GRCh38
NC_000005.9:g.36876667C>T , CM000667.1:g.36876667C>T	GRCh37
NC_000005.8:g.36912424C>T	NCBI36
NG_006987.1:g.4683C>T
NG_006987.2:g.4683C>T

Transcript Alleles

HGVS	Amino-acid Change
NR_046262.1:n.130G>A