Canonical Allele Identifier: CA2654221971
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31659710-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659710A>C , CM000683.2:g.31659710A>C GRCh38
NC_000021.8:g.33032023A>C , CM000683.1:g.33032023A>C GRCh37
NC_000021.7:g.31953894A>C NCBI36
NG_008689.1:g.5089A>C , LRG_652:g.5089A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.-60A>C MANE Select ENSP00000270142.7:n.-60A>C
ENST00000270142.10:c.-60A>C ENSP00000270142.6:n.-60A>C
ENST00000389995.4:c.-60A>C ENSP00000374645.4:n.-60A>C
ENST00000470944.1:n.2A>C
ENST00000476106.5:n.18A>C
NM_000454.4:c.-60A>C , LRG_652t1:c.-60A>C NP_000445.1:n.-60A>C
NM_000454.5:c.-60A>C MANE Select NP_000445.1:n.-60A>C
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