Canonical Allele Identifier: CA117447391

Gene: NIPBL-DT

Linked Data

• dbSNP Id: rs893627433
• gnomAD v3: 5-36876667-G-A
• gnomAD v4: 5-36876667-G-A
• MyVariant Identifiers: chr5:g.36876769G>A (hg19) ; chr5:g.36876667G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876667G>A , CM000667.2:g.36876667G>A	GRCh38
NC_000005.9:g.36876769G>A , CM000667.1:g.36876769G>A	GRCh37
NC_000005.8:g.36912526G>A	NCBI36
NG_006987.1:g.4785G>A
NG_006987.2:g.4785G>A

Transcript Alleles

HGVS	Amino-acid Change
NR_046262.1:n.28C>T