Canonical Allele Identifier: CA319330556
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 896436
ClinVar RCV Id: RCV001139081 RCV001843565
dbSNP Id: rs139202139
gnomAD v2: 21-33031996-G-A
gnomAD v3: 21-31659683-G-A
gnomAD v4: 21-31659683-G-A
MyVariant Identifiers: chr21:g.33031996G>A (hg19) chr21:g.31659683G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659683G>A , CM000683.2:g.31659683G>A GRCh38
NC_000021.8:g.33031996G>A , CM000683.1:g.33031996G>A GRCh37
NC_000021.7:g.31953867G>A NCBI36
NG_008689.1:g.5062G>A , LRG_652:g.5062G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.10:c.-87G>A ENSP00000270142.6:n.-87G>A
ENST00000389995.4:c.-87G>A ENSP00000374645.4:n.-87G>A
NM_000454.4:c.-87G>A , LRG_652t1:c.-87G>A NP_000445.1:n.-87G>A
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