Canonical Allele Identifier: CA340879456
Gene: NEXN HGNC NCBI

Linked Data

dbSNP Id: rs1405580142
gnomAD v3: 1-77936031-A-T
gnomAD v4: 1-77936031-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77936031A>T , CM000663.2:g.77936031A>T GRCh38
NC_000001.10:g.78401716A>T , CM000663.1:g.78401716A>T GRCh37
NC_000001.9:g.78174304A>T NCBI36
NG_016625.1:g.52517A>T , LRG_442:g.52517A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334785.12:c.1460A>T MANE Select ENSP00000333938.7:p.Glu487Val
ENST00000330010.12:c.1268A>T ENSP00000327363.8:p.Glu423Val
ENST00000334785.11:c.1460A>T ENSP00000333938.7:p.Glu487Val
ENST00000342754.5:c.1159A>T
ENST00000480732.2:n.1034A>T
NM_001172309.1:c.1268A>T NP_001165780.1:p.Glu423Val
NM_144573.3:c.1460A>T , LRG_442t1:c.1460A>T NP_653174.3:p.Glu487Val
XM_005271322.2:c.1460A>T XP_005271379.1:p.Glu487Val
XM_005271323.2:c.1418A>T XP_005271380.1:p.Glu473Val
XM_005271324.3:c.1268A>T XP_005271381.1:p.Glu423Val
XM_005271325.2:c.1251+2552A>T XP_005271382.1:n.1251+2552A>T
XM_005271326.2:c.1226A>T XP_005271383.1:p.Glu409Val
XM_005271327.2:c.1043A>T XP_005271384.1:p.Glu348Val
XM_005271322.4:c.1460A>T XP_005271379.1:p.Glu487Val
XM_005271323.4:c.1418A>T XP_005271380.1:p.Glu473Val
XM_005271324.5:c.1268A>T XP_005271381.1:p.Glu423Val
XM_005271325.4:c.1251+2552A>T XP_005271382.1:n.1251+2552A>T
XM_005271326.4:c.1226A>T XP_005271383.1:p.Glu409Val
XM_005271327.4:c.1043A>T XP_005271384.1:p.Glu348Val
NM_001172309.2:c.1268A>T NP_001165780.1:p.Glu423Val
NM_144573.4:c.1460A>T MANE Select NP_653174.3:p.Glu487Val