Canonical Allele Identifier: CA340881556

Gene: NEXN

Linked Data

• MyVariant Identifiers: chr1:g.78407871A>C (hg19) ; chr1:g.77942186A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942186A>C , CM000663.2:g.77942186A>C	GRCh38
NC_000001.10:g.78407871A>C , CM000663.1:g.78407871A>C	GRCh37
NC_000001.9:g.78180459A>C	NCBI36
NG_016625.1:g.58672A>C , LRG_442:g.58672A>C
NG_033243.2:g.41908T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1637A>C MANE Select	ENSP00000333938.7:p.Glu546Ala
ENST00000330010.12:c.1445A>C	ENSP00000327363.8:p.Glu482Ala
ENST00000334785.11:c.1637A>C	ENSP00000333938.7:p.Glu546Ala
ENST00000342754.5:c.1336A>C
ENST00000470735.1:n.476A>C
ENST00000480732.2:n.1211A>C
NM_001172309.1:c.1445A>C	NP_001165780.1:p.Glu482Ala
NM_144573.3:c.1637A>C , LRG_442t1:c.1637A>C	NP_653174.3:p.Glu546Ala
XM_005271322.2:c.1637A>C	XP_005271379.1:p.Glu546Ala
XM_005271323.2:c.1595A>C	XP_005271380.1:p.Glu532Ala
XM_005271324.3:c.1445A>C	XP_005271381.1:p.Glu482Ala
XM_005271325.2:c.1415A>C	XP_005271382.1:p.Glu472Ala
XM_005271326.2:c.1403A>C	XP_005271383.1:p.Glu468Ala
XM_005271327.2:c.1220A>C	XP_005271384.1:p.Glu407Ala
XM_005271322.4:c.1637A>C	XP_005271379.1:p.Glu546Ala
XM_005271323.4:c.1595A>C	XP_005271380.1:p.Glu532Ala
XM_005271324.5:c.1445A>C	XP_005271381.1:p.Glu482Ala
XM_005271325.4:c.1415A>C	XP_005271382.1:p.Glu472Ala
XM_005271326.4:c.1403A>C	XP_005271383.1:p.Glu468Ala
XM_005271327.4:c.1220A>C	XP_005271384.1:p.Glu407Ala
NM_001172309.2:c.1445A>C	NP_001165780.1:p.Glu482Ala
NM_144573.4:c.1637A>C MANE Select	NP_653174.3:p.Glu546Ala