Canonical Allele Identifier: CA559295257
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs1414295060
gnomAD v2: 5-37045516-T-C
gnomAD v4: 5-37045414-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045414T>C , CM000667.2:g.37045414T>C GRCh38
NC_000005.9:g.37045516T>C , CM000667.1:g.37045516T>C GRCh37
NC_000005.8:g.37081273T>C NCBI36
NG_006987.1:g.173532T>C
NG_006987.2:g.173532T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6344-29T>C MANE Select ENSP00000282516.8:n.6344-29T>C
ENST00000652901.1:c.6344-29T>C ENSP00000499536.1:n.6344-29T>C
ENST00000282516.12:c.6344-29T>C ENSP00000282516.8:n.6344-29T>C
ENST00000448238.2:c.6344-29T>C ENSP00000406266.2:n.6344-29T>C
ENST00000621733.1:c.1-19164T>C ENSP00000480694.1:n.1-19164T>C
NM_015384.4:c.6344-29T>C NP_056199.2:n.6344-29T>C
NM_133433.3:c.6344-29T>C NP_597677.2:n.6344-29T>C
XM_005248280.2:c.6344-29T>C XP_005248337.1:n.6344-29T>C
XM_005248282.3:c.5600-29T>C XP_005248339.2:n.5600-29T>C
XM_006714467.2:c.6344-29T>C XP_006714530.1:n.6344-29T>C
XM_006714468.1:c.6146-29T>C XP_006714531.1:n.6146-29T>C
XM_011514014.1:c.5963-29T>C XP_011512316.1:n.5963-29T>C
XM_011514015.1:c.6344-29T>C XP_011512317.1:n.6344-29T>C
XM_005248280.3:c.6344-29T>C XP_005248337.1:n.6344-29T>C
XM_005248282.5:c.5684-29T>C XP_005248339.3:n.5684-29T>C
XM_006714468.2:c.6146-29T>C XP_006714531.1:n.6146-29T>C
XM_017009329.1:c.6344-29T>C XP_016864818.1:n.6344-29T>C
XM_017009330.2:c.4727-29T>C XP_016864819.1:n.4727-29T>C
XM_017009331.1:c.4718-29T>C XP_016864820.1:n.4718-29T>C
NM_133433.4:c.6344-29T>C MANE Select NP_597677.2:n.6344-29T>C
NM_015384.5:c.6344-29T>C NP_056199.2:n.6344-29T>C