Canonical Allele Identifier: CA410037495
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 574319
ClinVar RCV Id: RCV000696225 RCV000713400 RCV001843542
dbSNP Id: rs76731700
MyVariant Identifiers: chr21:g.33039632G>A (hg19) chr21:g.31667319G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667319G>A , CM000683.2:g.31667319G>A GRCh38
NC_000021.8:g.33039632G>A , CM000683.1:g.33039632G>A GRCh37
NC_000021.7:g.31961503G>A NCBI36
NG_008689.1:g.12698G>A , LRG_652:g.12698G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.301G>A MANE Select ENSP00000270142.7:p.Glu101Lys
ENST00000270142.10:c.301G>A ENSP00000270142.6:p.Glu101Lys
ENST00000389995.4:c.244G>A ENSP00000374645.4:p.Glu82Lys
ENST00000470944.1:n.1229G>A
ENST00000476106.5:n.564G>A
NM_000454.4:c.301G>A , LRG_652t1:c.301G>A NP_000445.1:p.Glu101Lys
NM_000454.5:c.301G>A MANE Select NP_000445.1:p.Glu101Lys
Search 100 bp 5'
Search 100 bp 3'