Canonical Allele Identifier: CA2673572926
Gene: NIPBL HGNC NCBI

Linked Data

gnomAD v4: 5-36876766-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876766G>A , CM000667.2:g.36876766G>A GRCh38
NC_000005.9:g.36876868G>A , CM000667.1:g.36876868G>A GRCh37
NC_000005.8:g.36912625G>A NCBI36
NG_006987.1:g.4884G>A
NG_006987.2:g.4884G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.12:c.-492G>A ENSP00000282516.8:n.-492G>A
NM_015384.4:c.-492G>A NP_056199.2:n.-492G>A
NM_133433.3:c.-492G>A NP_597677.2:n.-492G>A