Canonical Allele Identifier: CA359505004
Gene: NIPBL HGNC NCBI

Linked Data

gnomAD v4: 5-37045592-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045592A>G , CM000667.2:g.37045592A>G GRCh38
NC_000005.9:g.37045694A>G , CM000667.1:g.37045694A>G GRCh37
NC_000005.8:g.37081451A>G NCBI36
NG_006987.1:g.173710A>G
NG_006987.2:g.173710A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6493A>G MANE Select ENSP00000282516.8:p.Ser2165Gly
ENST00000652901.1:c.6493A>G ENSP00000499536.1:p.Ser2165Gly
ENST00000282516.12:c.6493A>G ENSP00000282516.8:p.Ser2165Gly
ENST00000448238.2:c.6493A>G ENSP00000406266.2:p.Ser2165Gly
ENST00000621733.1:c.1-18986A>G ENSP00000480694.1:n.1-18986A>G
NM_015384.4:c.6493A>G NP_056199.2:p.Ser2165Gly
NM_133433.3:c.6493A>G NP_597677.2:p.Ser2165Gly
XM_005248280.2:c.6493A>G XP_005248337.1:p.Ser2165Gly
XM_005248282.3:c.5749A>G XP_005248339.2:p.Ser1917Gly
XM_006714467.2:c.6493A>G XP_006714530.1:p.Ser2165Gly
XM_006714468.1:c.6295A>G XP_006714531.1:p.Ser2099Gly
XM_011514014.1:c.6112A>G XP_011512316.1:p.Ser2038Gly
XM_011514015.1:c.6493A>G XP_011512317.1:p.Ser2165Gly
XM_005248280.3:c.6493A>G XP_005248337.1:p.Ser2165Gly
XM_005248282.5:c.5833A>G XP_005248339.3:p.Ser1945Gly
XM_006714468.2:c.6295A>G XP_006714531.1:p.Ser2099Gly
XM_017009329.1:c.6493A>G XP_016864818.1:p.Ser2165Gly
XM_017009330.2:c.4876A>G XP_016864819.1:p.Ser1626Gly
XM_017009331.1:c.4867A>G XP_016864820.1:p.Ser1623Gly
NM_133433.4:c.6493A>G MANE Select NP_597677.2:p.Ser2165Gly
NM_015384.5:c.6493A>G NP_056199.2:p.Ser2165Gly