Canonical Allele Identifier: CA410036102
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1505077
ClinVar RCV Id: RCV002020327 RCV003408072
dbSNP Id: rs1424217272
gnomAD v2: 21-33032151-G-C
gnomAD v4: 21-31659838-G-C
MyVariant Identifiers: chr21:g.33032151G>C (hg19) chr21:g.31659838G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659838G>C , CM000683.2:g.31659838G>C GRCh38
NC_000021.8:g.33032151G>C , CM000683.1:g.33032151G>C GRCh37
NC_000021.7:g.31954022G>C NCBI36
NG_008689.1:g.5217G>C , LRG_652:g.5217G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.69G>C MANE Select ENSP00000270142.7:p.Gln23His
ENST00000270142.10:c.69G>C ENSP00000270142.6:p.Gln23His
ENST00000389995.4:c.15+54G>C ENSP00000374645.4:n.15+54G>C
ENST00000470944.1:n.130G>C
ENST00000476106.5:n.146G>C
NM_000454.4:c.69G>C , LRG_652t1:c.69G>C NP_000445.1:p.Gln23His
NM_000454.5:c.69G>C MANE Select NP_000445.1:p.Gln23His
Search 100 bp 5'
Search 100 bp 3'