Canonical Allele Identifier: CA418709528
Gene: NEXN HGNC NCBI

Linked Data

gnomAD v4: 1-77936029-T-C
MyVariant Identifiers: chr1:g.78401714T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77936029T>C , CM000663.2:g.77936029T>C GRCh38
NC_000001.10:g.78401714T>C , CM000663.1:g.78401714T>C GRCh37
NC_000001.9:g.78174302T>C NCBI36
NG_016625.1:g.52515T>C , LRG_442:g.52515T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000334785.12:c.1458T>C MANE Select ENSP00000333938.7:p.Ala486=
ENST00000330010.12:c.1266T>C ENSP00000327363.8:p.Ala422=
ENST00000334785.11:c.1458T>C ENSP00000333938.7:p.Ala486=
ENST00000342754.5:c.1157T>C
ENST00000480732.2:n.1032T>C
NM_001172309.1:c.1266T>C NP_001165780.1:p.Ala422=
NM_144573.3:c.1458T>C , LRG_442t1:c.1458T>C NP_653174.3:p.Ala486=
XM_005271322.2:c.1458T>C XP_005271379.1:p.Ala486=
XM_005271323.2:c.1416T>C XP_005271380.1:p.Ala472=
XM_005271324.3:c.1266T>C XP_005271381.1:p.Ala422=
XM_005271325.2:c.1251+2550T>C XP_005271382.1:n.1251+2550T>C
XM_005271326.2:c.1224T>C XP_005271383.1:p.Ala408=
XM_005271327.2:c.1041T>C XP_005271384.1:p.Ala347=
XM_005271322.4:c.1458T>C XP_005271379.1:p.Ala486=
XM_005271323.4:c.1416T>C XP_005271380.1:p.Ala472=
XM_005271324.5:c.1266T>C XP_005271381.1:p.Ala422=
XM_005271325.4:c.1251+2550T>C XP_005271382.1:n.1251+2550T>C
XM_005271326.4:c.1224T>C XP_005271383.1:p.Ala408=
XM_005271327.4:c.1041T>C XP_005271384.1:p.Ala347=
NM_001172309.2:c.1266T>C NP_001165780.1:p.Ala422=
NM_144573.4:c.1458T>C MANE Select NP_653174.3:p.Ala486=