Canonical Allele Identifier: CA3236335
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs772377308
gnomAD v2: 5-37000597-G-T
gnomAD v4: 5-37000495-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37000495G>T , CM000667.2:g.37000495G>T GRCh38
NC_000005.9:g.37000597G>T , CM000667.1:g.37000597G>T GRCh37
NC_000005.8:g.37036354G>T NCBI36
NG_006987.1:g.128613G>T
NG_006987.2:g.128613G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.3427G>T MANE Select ENSP00000282516.8:p.Gly1143Cys
ENST00000652901.1:c.3427G>T ENSP00000499536.1:p.Gly1143Cys
ENST00000282516.12:c.3427G>T ENSP00000282516.8:p.Gly1143Cys
ENST00000448238.2:c.3427G>T ENSP00000406266.2:p.Gly1143Cys
ENST00000503274.1:n.778G>T
ENST00000621733.1:c.1-64083G>T ENSP00000480694.1:n.1-64083G>T
NM_015384.4:c.3427G>T NP_056199.2:p.Gly1143Cys
NM_133433.3:c.3427G>T NP_597677.2:p.Gly1143Cys
XM_005248280.2:c.3427G>T XP_005248337.1:p.Gly1143Cys
XM_005248282.3:c.2683G>T XP_005248339.2:p.Gly895Cys
XM_006714467.2:c.3427G>T XP_006714530.1:p.Gly1143Cys
XM_006714468.1:c.3305-322G>T XP_006714531.1:n.3305-322G>T
XM_011514014.1:c.3122-322G>T XP_011512316.1:n.3122-322G>T
XM_011514015.1:c.3427G>T XP_011512317.1:p.Gly1143Cys
XM_005248280.3:c.3427G>T XP_005248337.1:p.Gly1143Cys
XM_005248282.5:c.2767G>T XP_005248339.3:p.Gly923Cys
XM_006714468.2:c.3305-322G>T XP_006714531.1:n.3305-322G>T
XM_017009329.1:c.3427G>T XP_016864818.1:p.Gly1143Cys
XM_017009330.2:c.1810G>T XP_016864819.1:p.Gly604Cys
XM_017009331.1:c.1801G>T XP_016864820.1:p.Gly601Cys
NM_133433.4:c.3427G>T MANE Select NP_597677.2:p.Gly1143Cys
NM_015384.5:c.3427G>T NP_056199.2:p.Gly1143Cys