Canonical Allele Identifier: CA3235720
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs770720531
gnomAD v2: 5-36953775-G-A
gnomAD v3: 5-36953673-G-A
gnomAD v4: 5-36953673-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36953673G>A , CM000667.2:g.36953673G>A GRCh38
NC_000005.9:g.36953775G>A , CM000667.1:g.36953775G>A GRCh37
NC_000005.8:g.36989532G>A NCBI36
NG_006987.1:g.81791G>A
NG_006987.2:g.81791G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.-24G>A MANE Select ENSP00000282516.8:n.-24G>A
ENST00000652901.1:c.-24G>A ENSP00000499536.1:n.-24G>A
ENST00000282516.12:c.-24G>A ENSP00000282516.8:n.-24G>A
ENST00000448238.2:c.-24G>A ENSP00000406266.2:n.-24G>A
ENST00000621733.1:c.-1+76651G>A ENSP00000480694.1:n.-1+76651G>A
NM_015384.4:c.-24G>A NP_056199.2:n.-24G>A
NM_133433.3:c.-24G>A NP_597677.2:n.-24G>A
XM_005248280.2:c.-24G>A XP_005248337.1:n.-24G>A
XM_006714467.2:c.-24G>A XP_006714530.1:n.-24G>A
XM_006714468.1:c.-24G>A XP_006714531.1:n.-24G>A
XM_011514014.1:c.-24G>A XP_011512316.1:n.-24G>A
XM_011514015.1:c.-24G>A XP_011512317.1:n.-24G>A
XM_005248280.3:c.-24G>A XP_005248337.1:n.-24G>A
XM_006714468.2:c.-24G>A XP_006714531.1:n.-24G>A
XM_017009329.1:c.-24G>A XP_016864818.1:n.-24G>A
XM_017009331.1:c.-24G>A XP_016864820.1:n.-24G>A
NM_133433.4:c.-24G>A MANE Select NP_597677.2:n.-24G>A
NM_015384.5:c.-24G>A NP_056199.2:n.-24G>A