Canonical Allele Identifier: CA257319

Gene: SOD1

Linked Data

• ClinVar Variation Id: 14756
• ClinVar RCV Id: RCV000015878 ; RCV000713397 ; RCV002463588 ; RCV003398522
• dbSNP Id: rs121912435
• gnomAD v2: 21-33036161-A-G
• gnomAD v4: 21-31663848-A-G
• MyVariant Identifiers: chr21:g.33036161A>G (hg19) ; chr21:g.31663848A>G (hg38)
• PubMed: PMID:7891072 ; PMID:8446170

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31663848A>G , CM000683.2:g.31663848A>G	GRCh38
NC_000021.8:g.33036161A>G , CM000683.1:g.33036161A>G	GRCh37
NC_000021.7:g.31958032A>G	NCBI36
NG_008689.1:g.9227A>G , LRG_652:g.9227A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.131A>G MANE Select	ENSP00000270142.7:p.His44Arg
ENST00000270142.10:c.131A>G	ENSP00000270142.6:p.His44Arg
ENST00000389995.4:c.74A>G	ENSP00000374645.4:p.His25Arg
ENST00000470944.1:n.1059A>G
ENST00000476106.5:n.394A>G
NM_000454.4:c.131A>G , LRG_652t1:c.131A>G	NP_000445.1:p.His44Arg
NM_000454.5:c.131A>G MANE Select	NP_000445.1:p.His44Arg