Canonical Allele Identifier: CA319334574
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 468253
ClinVar RCV Id: RCV000529591
dbSNP Id: rs11556620
gnomAD v4: 21-31667278-A-G
MyVariant Identifiers: chr21:g.33039591A>G (hg19) chr21:g.31667278A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667278A>G , CM000683.2:g.31667278A>G GRCh38
NC_000021.8:g.33039591A>G , CM000683.1:g.33039591A>G GRCh37
NC_000021.7:g.31961462A>G NCBI36
NG_008689.1:g.12657A>G , LRG_652:g.12657A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.260A>G MANE Select ENSP00000270142.7:p.Asn87Ser
ENST00000270142.10:c.260A>G ENSP00000270142.6:p.Asn87Ser
ENST00000389995.4:c.203A>G ENSP00000374645.4:p.Asn68Ser
ENST00000470944.1:n.1188A>G
ENST00000476106.5:n.523A>G
NM_000454.4:c.260A>G , LRG_652t1:c.260A>G NP_000445.1:p.Asn87Ser
NM_000454.5:c.260A>G MANE Select NP_000445.1:p.Asn87Ser
Search 100 bp 5'
Search 100 bp 3'