Canonical Allele Identifier: CA340881057

Gene: NEXN

Linked Data

• dbSNP Id: rs1651371301
• gnomAD v4: 1-77942110-G-A
• MyVariant Identifiers: chr1:g.78407795G>A (hg19) ; chr1:g.77942110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942110G>A , CM000663.2:g.77942110G>A	GRCh38
NC_000001.10:g.78407795G>A , CM000663.1:g.78407795G>A	GRCh37
NC_000001.9:g.78180383G>A	NCBI36
NG_016625.1:g.58596G>A , LRG_442:g.58596G>A
NG_033243.2:g.41984C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.1561G>A MANE Select	ENSP00000333938.7:p.Ala521Thr
ENST00000330010.12:c.1369G>A	ENSP00000327363.8:p.Ala457Thr
ENST00000334785.11:c.1561G>A	ENSP00000333938.7:p.Ala521Thr
ENST00000342754.5:c.1260G>A
ENST00000470735.1:n.400G>A
ENST00000480732.2:n.1135G>A
NM_001172309.1:c.1369G>A	NP_001165780.1:p.Ala457Thr
NM_144573.3:c.1561G>A , LRG_442t1:c.1561G>A	NP_653174.3:p.Ala521Thr
XM_005271322.2:c.1561G>A	XP_005271379.1:p.Ala521Thr
XM_005271323.2:c.1519G>A	XP_005271380.1:p.Ala507Thr
XM_005271324.3:c.1369G>A	XP_005271381.1:p.Ala457Thr
XM_005271325.2:c.1339G>A	XP_005271382.1:p.Ala447Thr
XM_005271326.2:c.1327G>A	XP_005271383.1:p.Ala443Thr
XM_005271327.2:c.1144G>A	XP_005271384.1:p.Ala382Thr
XM_005271322.4:c.1561G>A	XP_005271379.1:p.Ala521Thr
XM_005271323.4:c.1519G>A	XP_005271380.1:p.Ala507Thr
XM_005271324.5:c.1369G>A	XP_005271381.1:p.Ala457Thr
XM_005271325.4:c.1339G>A	XP_005271382.1:p.Ala447Thr
XM_005271326.4:c.1327G>A	XP_005271383.1:p.Ala443Thr
XM_005271327.4:c.1144G>A	XP_005271384.1:p.Ala382Thr
NM_001172309.2:c.1369G>A	NP_001165780.1:p.Ala457Thr
NM_144573.4:c.1561G>A MANE Select	NP_653174.3:p.Ala521Thr