Canonical Allele Identifier: CA410037589
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 805495
ClinVar RCV Id: RCV000993042 RCV002290508
dbSNP Id: rs1301635320
gnomAD v2: 21-33039677-C-G
MyVariant Identifiers: chr21:g.33039677C>G (hg19) chr21:g.31667364C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667364C>G , CM000683.2:g.31667364C>G GRCh38
NC_000021.8:g.33039677C>G , CM000683.1:g.33039677C>G GRCh37
NC_000021.7:g.31961548C>G NCBI36
NG_008689.1:g.12743C>G , LRG_652:g.12743C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.346C>G MANE Select ENSP00000270142.7:p.Arg116Gly
ENST00000270142.10:c.346C>G ENSP00000270142.6:p.Arg116Gly
ENST00000389995.4:c.289C>G ENSP00000374645.4:p.Arg97Gly
ENST00000470944.1:n.1274C>G
NM_000454.4:c.346C>G , LRG_652t1:c.346C>G NP_000445.1:p.Arg116Gly
NM_000454.5:c.346C>G MANE Select NP_000445.1:p.Arg116Gly
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Search 100 bp 3'