Canonical Allele Identifier: CA2673572929
Gene: NIPBL HGNC NCBI

Linked Data

gnomAD v4: 5-36876767-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876767G>A , CM000667.2:g.36876767G>A GRCh38
NC_000005.9:g.36876869G>A , CM000667.1:g.36876869G>A GRCh37
NC_000005.8:g.36912626G>A NCBI36
NG_006987.1:g.4885G>A
NG_006987.2:g.4885G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.12:c.-491G>A ENSP00000282516.8:n.-491G>A
NM_015384.4:c.-491G>A NP_056199.2:n.-491G>A
NM_133433.3:c.-491G>A NP_597677.2:n.-491G>A
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