Canonical Allele Identifier: CA340879520

Gene: NEXN

Linked Data

• gnomAD v4: 1-77936044-G-T
• MyVariant Identifiers: chr1:g.78401729G>T (hg19) ; chr1:g.77936044G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77936044G>T , CM000663.2:g.77936044G>T	GRCh38
NC_000001.10:g.78401729G>T , CM000663.1:g.78401729G>T	GRCh37
NC_000001.9:g.78174317G>T	NCBI36
NG_016625.1:g.52530G>T , LRG_442:g.52530G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1473G>T MANE Select	ENSP00000333938.7:p.Glu491Asp
ENST00000330010.12:c.1281G>T	ENSP00000327363.8:p.Glu427Asp
ENST00000334785.11:c.1473G>T	ENSP00000333938.7:p.Glu491Asp
ENST00000342754.5:c.1172G>T
ENST00000480732.2:n.1047G>T
NM_001172309.1:c.1281G>T	NP_001165780.1:p.Glu427Asp
NM_144573.3:c.1473G>T , LRG_442t1:c.1473G>T	NP_653174.3:p.Glu491Asp
XM_005271322.2:c.1473G>T	XP_005271379.1:p.Glu491Asp
XM_005271323.2:c.1431G>T	XP_005271380.1:p.Glu477Asp
XM_005271324.3:c.1281G>T	XP_005271381.1:p.Glu427Asp
XM_005271325.2:c.1251+2565G>T	XP_005271382.1:n.1251+2565G>T
XM_005271326.2:c.1239G>T	XP_005271383.1:p.Glu413Asp
XM_005271327.2:c.1056G>T	XP_005271384.1:p.Glu352Asp
XM_005271322.4:c.1473G>T	XP_005271379.1:p.Glu491Asp
XM_005271323.4:c.1431G>T	XP_005271380.1:p.Glu477Asp
XM_005271324.5:c.1281G>T	XP_005271381.1:p.Glu427Asp
XM_005271325.4:c.1251+2565G>T	XP_005271382.1:n.1251+2565G>T
XM_005271326.4:c.1239G>T	XP_005271383.1:p.Glu413Asp
XM_005271327.4:c.1056G>T	XP_005271384.1:p.Glu352Asp
NM_001172309.2:c.1281G>T	NP_001165780.1:p.Glu427Asp
NM_144573.4:c.1473G>T MANE Select	NP_653174.3:p.Glu491Asp