Canonical Allele Identifier: CA410037584
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 932453
ClinVar RCV Id: RCV001200267
dbSNP Id: rs2049604095
MyVariant Identifiers: chr21:g.33039674G>A (hg19) chr21:g.31667361G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667361G>A , CM000683.2:g.31667361G>A GRCh38
NC_000021.8:g.33039674G>A , CM000683.1:g.33039674G>A GRCh37
NC_000021.7:g.31961545G>A NCBI36
NG_008689.1:g.12740G>A , LRG_652:g.12740G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.343G>A MANE Select ENSP00000270142.7:p.Gly115Ser
ENST00000270142.10:c.343G>A ENSP00000270142.6:p.Gly115Ser
ENST00000389995.4:c.286G>A ENSP00000374645.4:p.Gly96Ser
ENST00000470944.1:n.1271G>A
NM_000454.4:c.343G>A , LRG_652t1:c.343G>A NP_000445.1:p.Gly115Ser
NM_000454.5:c.343G>A MANE Select NP_000445.1:p.Gly115Ser
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Search 100 bp 3'