Canonical Allele Identifier: CA418709498
Gene: NEXN HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.78401693T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77936008T>A , CM000663.2:g.77936008T>A GRCh38
NC_000001.10:g.78401693T>A , CM000663.1:g.78401693T>A GRCh37
NC_000001.9:g.78174281T>A NCBI36
NG_016625.1:g.52494T>A , LRG_442:g.52494T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334785.12:c.1437T>A MANE Select ENSP00000333938.7:p.Leu479=
ENST00000330010.12:c.1245T>A ENSP00000327363.8:p.Leu415=
ENST00000334785.11:c.1437T>A ENSP00000333938.7:p.Leu479=
ENST00000342754.5:c.1136T>A
ENST00000480732.2:n.1011T>A
NM_001172309.1:c.1245T>A NP_001165780.1:p.Leu415=
NM_144573.3:c.1437T>A , LRG_442t1:c.1437T>A NP_653174.3:p.Leu479=
XM_005271322.2:c.1437T>A XP_005271379.1:p.Leu479=
XM_005271323.2:c.1395T>A XP_005271380.1:p.Leu465=
XM_005271324.3:c.1245T>A XP_005271381.1:p.Leu415=
XM_005271325.2:c.1251+2529T>A XP_005271382.1:n.1251+2529T>A
XM_005271326.2:c.1203T>A XP_005271383.1:p.Leu401=
XM_005271327.2:c.1020T>A XP_005271384.1:p.Leu340=
XM_005271322.4:c.1437T>A XP_005271379.1:p.Leu479=
XM_005271323.4:c.1395T>A XP_005271380.1:p.Leu465=
XM_005271324.5:c.1245T>A XP_005271381.1:p.Leu415=
XM_005271325.4:c.1251+2529T>A XP_005271382.1:n.1251+2529T>A
XM_005271326.4:c.1203T>A XP_005271383.1:p.Leu401=
XM_005271327.4:c.1020T>A XP_005271384.1:p.Leu340=
NM_001172309.2:c.1245T>A NP_001165780.1:p.Leu415=
NM_144573.4:c.1437T>A MANE Select NP_653174.3:p.Leu479=