Canonical Allele Identifier: CA359504934
Gene: NIPBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045587G>A , CM000667.2:g.37045587G>A GRCh38
NC_000005.9:g.37045689G>A , CM000667.1:g.37045689G>A GRCh37
NC_000005.8:g.37081446G>A NCBI36
NG_006987.1:g.173705G>A
NG_006987.2:g.173705G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6488G>A MANE Select ENSP00000282516.8:p.Gly2163Asp
ENST00000652901.1:c.6488G>A ENSP00000499536.1:p.Gly2163Asp
ENST00000282516.12:c.6488G>A ENSP00000282516.8:p.Gly2163Asp
ENST00000448238.2:c.6488G>A ENSP00000406266.2:p.Gly2163Asp
ENST00000621733.1:c.1-18991G>A ENSP00000480694.1:p.=
NM_015384.4:c.6488G>A NP_056199.2:p.Gly2163Asp
NM_133433.3:c.6488G>A NP_597677.2:p.Gly2163Asp
XM_005248280.2:c.6488G>A XP_005248337.1:p.Gly2163Asp
XM_005248282.3:c.5744G>A XP_005248339.2:p.Gly1915Asp
XM_006714467.2:c.6488G>A XP_006714530.1:p.Gly2163Asp
XM_006714468.1:c.6290G>A XP_006714531.1:p.Gly2097Asp
XM_011514014.1:c.6107G>A XP_011512316.1:p.Gly2036Asp
XM_011514015.1:c.6488G>A XP_011512317.1:p.Gly2163Asp
XM_005248280.3:c.6488G>A XP_005248337.1:p.Gly2163Asp
XM_005248282.5:c.5828G>A XP_005248339.3:p.Gly1943Asp
XM_006714468.2:c.6290G>A XP_006714531.1:p.Gly2097Asp
XM_017009329.1:c.6488G>A XP_016864818.1:p.Gly2163Asp
XM_017009330.2:c.4871G>A XP_016864819.1:p.Gly1624Asp
XM_017009331.1:c.4862G>A XP_016864820.1:p.Gly1621Asp
NM_133433.4:c.6488G>A MANE Select NP_597677.2:p.Gly2163Asp
NM_015384.5:c.6488G>A NP_056199.2:p.Gly2163Asp