Canonical Allele Identifier: CA2673572919
Gene: NIPBL HGNC NCBI

Linked Data

gnomAD v4: 5-36876761-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876761C>T , CM000667.2:g.36876761C>T GRCh38
NC_000005.9:g.36876863C>T , CM000667.1:g.36876863C>T GRCh37
NC_000005.8:g.36912620C>T NCBI36
NG_006987.1:g.4879C>T
NG_006987.2:g.4879C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.12:c.-497C>T ENSP00000282516.8:n.-497C>T
NM_015384.4:c.-497C>T NP_056199.2:n.-497C>T
NM_133433.3:c.-497C>T NP_597677.2:n.-497C>T
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