Canonical Allele Identifier: CA10652866
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 339663
ClinVar RCV Id: RCV000259567
dbSNP Id: rs535066119
gnomAD v3: 21-31659714-T-A
gnomAD v4: 21-31659714-T-A
MyVariant Identifiers: chr21:g.33032027T>A (hg19) chr21:g.31659714T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659714T>A , CM000683.2:g.31659714T>A GRCh38
NC_000021.8:g.33032027T>A , CM000683.1:g.33032027T>A GRCh37
NC_000021.7:g.31953898T>A NCBI36
NG_008689.1:g.5093T>A , LRG_652:g.5093T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.-56T>A MANE Select ENSP00000270142.7:n.-56T>A
ENST00000270142.10:c.-56T>A ENSP00000270142.6:n.-56T>A
ENST00000389995.4:c.-56T>A ENSP00000374645.4:n.-56T>A
ENST00000470944.1:n.6T>A
ENST00000476106.5:n.22T>A
NM_000454.4:c.-56T>A , LRG_652t1:c.-56T>A NP_000445.1:n.-56T>A
NM_000454.5:c.-56T>A MANE Select NP_000445.1:n.-56T>A
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