Canonical Allele Identifier: CA739053553

Gene: NEXN

Linked Data

• dbSNP Id: rs1330715373
• gnomAD v3: 1-77933533-A-C
• gnomAD v4: 1-77933533-A-C
• MyVariant Identifiers: chr1:g.78399218A>C (hg19) ; chr1:g.77933533A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77933533A>C , CM000663.2:g.77933533A>C	GRCh38
NC_000001.10:g.78399218A>C , CM000663.1:g.78399218A>C	GRCh37
NC_000001.9:g.78171806A>C	NCBI36
NG_016625.1:g.50019A>C , LRG_442:g.50019A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1251+54A>C MANE Select	ENSP00000333938.7:n.1251+54A>C
ENST00000330010.12:c.1059+54A>C	ENSP00000327363.8:n.1059+54A>C
ENST00000334785.11:c.1251+54A>C	ENSP00000333938.7:n.1251+54A>C
ENST00000342754.5:c.950+54A>C
ENST00000440324.5:c.1209+54A>C	ENSP00000411902.1:n.1209+54A>C
ENST00000464998.1:n.711+54A>C
ENST00000480732.2:n.825+54A>C
NM_001172309.1:c.1059+54A>C	NP_001165780.1:n.1059+54A>C
NM_144573.3:c.1251+54A>C , LRG_442t1:c.1251+54A>C	NP_653174.3:n.1251+54A>C
XM_005271322.2:c.1251+54A>C	XP_005271379.1:n.1251+54A>C
XM_005271323.2:c.1209+54A>C	XP_005271380.1:n.1209+54A>C
XM_005271324.3:c.1059+54A>C	XP_005271381.1:n.1059+54A>C
XM_005271325.2:c.1251+54A>C	XP_005271382.1:n.1251+54A>C
XM_005271326.2:c.1017+54A>C	XP_005271383.1:n.1017+54A>C
XM_005271327.2:c.834+54A>C	XP_005271384.1:n.834+54A>C
XM_005271322.4:c.1251+54A>C	XP_005271379.1:n.1251+54A>C
XM_005271323.4:c.1209+54A>C	XP_005271380.1:n.1209+54A>C
XM_005271324.5:c.1059+54A>C	XP_005271381.1:n.1059+54A>C
XM_005271325.4:c.1251+54A>C	XP_005271382.1:n.1251+54A>C
XM_005271326.4:c.1017+54A>C	XP_005271383.1:n.1017+54A>C
XM_005271327.4:c.834+54A>C	XP_005271384.1:n.834+54A>C
NM_001172309.2:c.1059+54A>C	NP_001165780.1:n.1059+54A>C
NM_144573.4:c.1251+54A>C MANE Select	NP_653174.3:n.1251+54A>C