Canonical Allele Identifier: CA2654222293
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31660121-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660121G>A , CM000683.2:g.31660121G>A GRCh38
NC_000021.8:g.33032434G>A , CM000683.1:g.33032434G>A GRCh37
NC_000021.7:g.31954305G>A NCBI36
NG_008689.1:g.5500G>A , LRG_652:g.5500G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+280G>A MANE Select ENSP00000270142.7:n.72+280G>A
ENST00000270142.10:c.72+280G>A ENSP00000270142.6:n.72+280G>A
ENST00000389995.4:c.15+337G>A ENSP00000374645.4:n.15+337G>A
ENST00000470944.1:n.413G>A
ENST00000476106.5:n.149+280G>A
NM_000454.4:c.72+280G>A , LRG_652t1:c.72+280G>A NP_000445.1:n.72+280G>A
NM_000454.5:c.72+280G>A MANE Select NP_000445.1:n.72+280G>A
Search 100 bp 5'
Search 100 bp 3'