Canonical Allele Identifier: CA2385876749
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1337590615
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660064C>G , CM000683.2:g.31660064C>G GRCh38
NC_000021.8:g.33032377C>G , CM000683.1:g.33032377C>G GRCh37
NC_000021.7:g.31954248C>G NCBI36
NG_008689.1:g.5443C>G , LRG_652:g.5443C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+223C>G MANE Select ENSP00000270142.7:n.72+223C>G
ENST00000270142.10:c.72+223C>G ENSP00000270142.6:n.72+223C>G
ENST00000389995.4:c.15+280C>G ENSP00000374645.4:n.15+280C>G
ENST00000470944.1:n.356C>G
ENST00000476106.5:n.149+223C>G
NM_000454.4:c.72+223C>G , LRG_652t1:c.72+223C>G NP_000445.1:n.72+223C>G
NM_000454.5:c.72+223C>G MANE Select NP_000445.1:n.72+223C>G
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