Canonical Allele Identifier: CA637245860
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1350550148
gnomAD v2: 21-33031953-C-T
gnomAD v3: 21-31659640-C-T
gnomAD v4: 21-31659640-C-T
MyVariant Identifiers: chr21:g.33031953C>T (hg19) chr21:g.31659640C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659640C>T , CM000683.2:g.31659640C>T GRCh38
NC_000021.8:g.33031953C>T , CM000683.1:g.33031953C>T GRCh37
NC_000021.7:g.31953824C>T NCBI36
NG_008689.1:g.5019C>T , LRG_652:g.5019C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.10:c.-130C>T ENSP00000270142.6:n.-130C>T
NM_000454.4:c.-130C>T , LRG_652t1:c.-130C>T NP_000445.1:n.-130C>T
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