Canonical Allele Identifier: CA410037470
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1430718
ClinVar RCV Id: RCV001971902
dbSNP Id: rs1568810690
gnomAD v4: 21-31667305-C-T
MyVariant Identifiers: chr21:g.33039618C>T (hg19) chr21:g.31667305C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667305C>T , CM000683.2:g.31667305C>T GRCh38
NC_000021.8:g.33039618C>T , CM000683.1:g.33039618C>T GRCh37
NC_000021.7:g.31961489C>T NCBI36
NG_008689.1:g.12684C>T , LRG_652:g.12684C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.287C>T MANE Select ENSP00000270142.7:p.Ala96Val
ENST00000270142.10:c.287C>T ENSP00000270142.6:p.Ala96Val
ENST00000389995.4:c.230C>T ENSP00000374645.4:p.Ala77Val
ENST00000470944.1:n.1215C>T
ENST00000476106.5:n.550C>T
NM_000454.4:c.287C>T , LRG_652t1:c.287C>T NP_000445.1:p.Ala96Val
NM_000454.5:c.287C>T MANE Select NP_000445.1:p.Ala96Val
Search 100 bp 5'
Search 100 bp 3'