Canonical Allele Identifier: CA418709135
Gene: NEXN HGNC NCBI

Linked Data

ClinVar Variation Id: 538114
ClinVar RCV Id: RCV000647292
dbSNP Id: rs1553236762
gnomAD v4: 1-77918147-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77918147T>A , CM000663.2:g.77918147T>A GRCh38
NC_000001.10:g.78383832T>A , CM000663.1:g.78383832T>A GRCh37
NC_000001.9:g.78156420T>A NCBI36
NG_016625.1:g.34633T>A , LRG_442:g.34633T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000334785.12:c.321T>A MANE Select ENSP00000333938.7:p.Ala107=
ENST00000330010.12:c.129T>A ENSP00000327363.8:p.Ala43=
ENST00000334785.11:c.321T>A ENSP00000333938.7:p.Ala107=
ENST00000342754.5:c.20T>A
ENST00000401035.7:c.129T>A ENSP00000383814.3:p.Ala43=
ENST00000440324.5:c.321T>A ENSP00000411902.1:p.Ala107=
NM_001172309.1:c.129T>A NP_001165780.1:p.Ala43=
NM_144573.3:c.321T>A , LRG_442t1:c.321T>A NP_653174.3:p.Ala107=
XM_005271322.2:c.321T>A XP_005271379.1:p.Ala107=
XM_005271323.2:c.321T>A XP_005271380.1:p.Ala107=
XM_005271324.3:c.129T>A XP_005271381.1:p.Ala43=
XM_005271325.2:c.321T>A XP_005271382.1:p.Ala107=
XM_005271326.2:c.129T>A XP_005271383.1:p.Ala43=
XM_005271327.2:c.321T>A XP_005271384.1:p.Ala107=
XM_005271322.4:c.321T>A XP_005271379.1:p.Ala107=
XM_005271323.4:c.321T>A XP_005271380.1:p.Ala107=
XM_005271324.5:c.129T>A XP_005271381.1:p.Ala43=
XM_005271325.4:c.321T>A XP_005271382.1:p.Ala107=
XM_005271326.4:c.129T>A XP_005271383.1:p.Ala43=
XM_005271327.4:c.321T>A XP_005271384.1:p.Ala107=
NM_001172309.2:c.129T>A NP_001165780.1:p.Ala43=
NM_144573.4:c.321T>A MANE Select NP_653174.3:p.Ala107=