Canonical Allele Identifier: CA2385876764
Gene: SOD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660088C= , CM000683.2:g.31660088C= GRCh38
NC_000021.8:g.33032401C= , CM000683.1:g.33032401C= GRCh37
NC_000021.7:g.31954272C= NCBI36
NG_008689.1:g.5467C= , LRG_652:g.5467C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+247C= MANE Select ENSP00000270142.7:n.72+247C=
ENST00000270142.10:c.72+247C= ENSP00000270142.6:n.72+247C=
ENST00000389995.4:c.15+304C= ENSP00000374645.4:n.15+304C=
ENST00000470944.1:n.380C=
ENST00000476106.5:n.149+247C=
NM_000454.4:c.72+247C= , LRG_652t1:c.72+247C= NP_000445.1:n.72+247C=
NM_000454.5:c.72+247C= MANE Select NP_000445.1:n.72+247C=
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