Canonical Allele Identifier: CA257335
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14764
dbSNP Id: rs121912443

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31663857A>G , CM000683.2:g.31663857A>G GRCh38
NC_000021.8:g.33036170A>G , CM000683.1:g.33036170A>G GRCh37
NC_000021.7:g.31958041A>G NCBI36
NG_008689.1:g.9236A>G , LRG_652:g.9236A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.140A>G MANE Select ENSP00000270142.7:p.His47Arg
ENST00000270142.10:c.140A>G ENSP00000270142.6:p.His47Arg
ENST00000389995.4:c.83A>G ENSP00000374645.4:p.His28Arg
ENST00000470944.1:n.1068A>G
ENST00000476106.5:n.403A>G
NM_000454.4:c.140A>G , LRG_652t1:c.140A>G NP_000445.1:p.His47Arg
NM_000454.5:c.140A>G MANE Select NP_000445.1:p.His47Arg