Canonical Allele Identifier: CA2673572720
Gene: NIPBL-DT HGNC NCBI

Linked Data

gnomAD v4: 5-36876615-G-T

Genomic Alleles

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

Transcript Alleles

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