Canonical Allele Identifier: CA810266563

Gene: NIPBL-DT

Linked Data

• dbSNP Id: rs1360624315
• gnomAD v3: 5-36876615-G-A
• gnomAD v4: 5-36876615-G-A
• MyVariant Identifiers: chr5:g.36876717G>A (hg19) ; chr5:g.36876615G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876615G>A , CM000667.2:g.36876615G>A	GRCh38
NC_000005.9:g.36876717G>A , CM000667.1:g.36876717G>A	GRCh37
NC_000005.8:g.36912474G>A	NCBI36
NG_006987.1:g.4733G>A
NG_006987.2:g.4733G>A

Transcript Alleles

HGVS	Amino-acid Change
NR_046262.1:n.80C>T