Canonical Allele Identifier: CA319334625
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs111229903
gnomAD v2: 21-33039622-T-A
gnomAD v3: 21-31667309-T-A
gnomAD v4: 21-31667309-T-A
MyVariant Identifiers: chr21:g.33039622T>A (hg19) chr21:g.31667309T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667309T>A , CM000683.2:g.31667309T>A GRCh38
NC_000021.8:g.33039622T>A , CM000683.1:g.33039622T>A GRCh37
NC_000021.7:g.31961493T>A NCBI36
NG_008689.1:g.12688T>A , LRG_652:g.12688T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.291T>A MANE Select ENSP00000270142.7:p.Asp97Glu
ENST00000270142.10:c.291T>A ENSP00000270142.6:p.Asp97Glu
ENST00000389995.4:c.234T>A ENSP00000374645.4:p.Asp78Glu
ENST00000470944.1:n.1219T>A
ENST00000476106.5:n.554T>A
NM_000454.4:c.291T>A , LRG_652t1:c.291T>A NP_000445.1:p.Asp97Glu
NM_000454.5:c.291T>A MANE Select NP_000445.1:p.Asp97Glu
Search 100 bp 5'
Search 100 bp 3'