Canonical Allele Identifier: CA2654221980
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31659730-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659730C>A , CM000683.2:g.31659730C>A GRCh38
NC_000021.8:g.33032043C>A , CM000683.1:g.33032043C>A GRCh37
NC_000021.7:g.31953914C>A NCBI36
NG_008689.1:g.5109C>A , LRG_652:g.5109C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.-40C>A MANE Select ENSP00000270142.7:n.-40C>A
ENST00000270142.10:c.-40C>A ENSP00000270142.6:n.-40C>A
ENST00000389995.4:c.-40C>A ENSP00000374645.4:n.-40C>A
ENST00000470944.1:n.22C>A
ENST00000476106.5:n.38C>A
NM_000454.4:c.-40C>A , LRG_652t1:c.-40C>A NP_000445.1:n.-40C>A
NM_000454.5:c.-40C>A MANE Select NP_000445.1:n.-40C>A
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