Canonical Allele Identifier: CA1075102187
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs1745060402
gnomAD v3: 5-36876647-G-C
gnomAD v4: 5-36876647-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876647G>C , CM000667.2:g.36876647G>C GRCh38
NC_000005.9:g.36876749G>C , CM000667.1:g.36876749G>C GRCh37
NC_000005.8:g.36912506G>C NCBI36
NG_006987.1:g.4765G>C
NG_006987.2:g.4765G>C

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.48C>G
Search 100 bp 5'
Search 100 bp 3'