Canonical Allele Identifier: CA10653486
Gene: SOD1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.31659661A>G
GRCh37 chr21:g.33031974A>G
gnomAD v2:
21:33031974 A / G
gnomAD v3:
21:31659661 A / G
gnomAD v4:
chr21-31659661-A-G
Joint Max Group AF 0.13011859 (AFR)
Genomes Max Group AF 0.12676465 (AFR)
Exomes Max Group AF 0.13321614 (AFR)
ClinVar RCV:
RCV000644458
RCV001618599
ClinVar Variation:
339660
dbSNP:
7277748
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659661A>G , CM000683.2:g.31659661A>G GRCh38
NC_000021.8:g.33031974A>G , CM000683.1:g.33031974A>G GRCh37
NC_000021.7:g.31953845A>G NCBI36
NG_008689.1:g.5040A>G , LRG_652:g.5040A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.10:c.-109A>G ENSP00000270142.6:n.-109A>G
NM_000454.4:c.-109A>G , LRG_652t1:c.-109A>G NP_000445.1:n.-109A>G
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