Canonical Allele Identifier: CA1021796673
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs2049528110
gnomAD v3: 21-31659667-T-A
gnomAD v4: 21-31659667-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659667T>A , CM000683.2:g.31659667T>A GRCh38
NC_000021.8:g.33031980T>A , CM000683.1:g.33031980T>A GRCh37
NC_000021.7:g.31953851T>A NCBI36
NG_008689.1:g.5046T>A , LRG_652:g.5046T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.10:c.-103T>A ENSP00000270142.6:n.-103T>A
ENST00000389995.4:c.-103T>A ENSP00000374645.4:n.-103T>A
NM_000454.4:c.-103T>A , LRG_652t1:c.-103T>A NP_000445.1:n.-103T>A
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