Canonical Allele Identifier: CA2385876787
Gene: SOD1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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