Canonical Allele Identifier: CA340879375

Gene: NEXN

Linked Data

• MyVariant Identifiers: chr1:g.78401692T>A (hg19) ; chr1:g.77936007T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77936007T>A , CM000663.2:g.77936007T>A	GRCh38
NC_000001.10:g.78401692T>A , CM000663.1:g.78401692T>A	GRCh37
NC_000001.9:g.78174280T>A	NCBI36
NG_016625.1:g.52493T>A , LRG_442:g.52493T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1436T>A MANE Select	ENSP00000333938.7:p.Leu479His
ENST00000330010.12:c.1244T>A	ENSP00000327363.8:p.Leu415His
ENST00000334785.11:c.1436T>A	ENSP00000333938.7:p.Leu479His
ENST00000342754.5:c.1135T>A
ENST00000480732.2:n.1010T>A
NM_001172309.1:c.1244T>A	NP_001165780.1:p.Leu415His
NM_144573.3:c.1436T>A , LRG_442t1:c.1436T>A	NP_653174.3:p.Leu479His
XM_005271322.2:c.1436T>A	XP_005271379.1:p.Leu479His
XM_005271323.2:c.1394T>A	XP_005271380.1:p.Leu465His
XM_005271324.3:c.1244T>A	XP_005271381.1:p.Leu415His
XM_005271325.2:c.1251+2528T>A	XP_005271382.1:n.1251+2528T>A
XM_005271326.2:c.1202T>A	XP_005271383.1:p.Leu401His
XM_005271327.2:c.1019T>A	XP_005271384.1:p.Leu340His
XM_005271322.4:c.1436T>A	XP_005271379.1:p.Leu479His
XM_005271323.4:c.1394T>A	XP_005271380.1:p.Leu465His
XM_005271324.5:c.1244T>A	XP_005271381.1:p.Leu415His
XM_005271325.4:c.1251+2528T>A	XP_005271382.1:n.1251+2528T>A
XM_005271326.4:c.1202T>A	XP_005271383.1:p.Leu401His
XM_005271327.4:c.1019T>A	XP_005271384.1:p.Leu340His
NM_001172309.2:c.1244T>A	NP_001165780.1:p.Leu415His
NM_144573.4:c.1436T>A MANE Select	NP_653174.3:p.Leu479His