Canonical Allele Identifier: CA15986534
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1222120
ClinVar RCV Id: RCV001595938
dbSNP Id: rs10432782
gnomAD v2: 21-33036391-T-G
gnomAD v3: 21-31664078-T-G
gnomAD v4: 21-31664078-T-G
MyVariant Identifiers: chr21:g.33036391T>G (hg19) chr21:g.31664078T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31664078T>G , CM000683.2:g.31664078T>G GRCh38
NC_000021.8:g.33036391T>G , CM000683.1:g.33036391T>G GRCh37
NC_000021.7:g.31958262T>G NCBI36
NG_008689.1:g.9457T>G , LRG_652:g.9457T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.169+192T>G MANE Select ENSP00000270142.7:n.169+192T>G
ENST00000270142.10:c.169+192T>G ENSP00000270142.6:n.169+192T>G
ENST00000389995.4:c.112+192T>G ENSP00000374645.4:n.112+192T>G
ENST00000470944.1:n.1097+192T>G
ENST00000476106.5:n.432+192T>G
NM_000454.4:c.169+192T>G , LRG_652t1:c.169+192T>G NP_000445.1:n.169+192T>G
NM_000454.5:c.169+192T>G MANE Select NP_000445.1:n.169+192T>G
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