Canonical Allele Identifier: CA319330554
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 898063
ClinVar RCV Id: RCV001141692
dbSNP Id: rs139202139
gnomAD v3: 21-31659683-G-C
gnomAD v4: 21-31659683-G-C
MyVariant Identifiers: chr21:g.33031996G>C (hg19) chr21:g.31659683G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659683G>C , CM000683.2:g.31659683G>C GRCh38
NC_000021.8:g.33031996G>C , CM000683.1:g.33031996G>C GRCh37
NC_000021.7:g.31953867G>C NCBI36
NG_008689.1:g.5062G>C , LRG_652:g.5062G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.10:c.-87G>C ENSP00000270142.6:n.-87G>C
ENST00000389995.4:c.-87G>C ENSP00000374645.4:n.-87G>C
NM_000454.4:c.-87G>C , LRG_652t1:c.-87G>C NP_000445.1:n.-87G>C
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