Canonical Allele Identifier: CA637245862

Gene: SOD1

Linked Data

• dbSNP Id: rs1350550148
• gnomAD v2: 21-33031953-C-G
• gnomAD v3: 21-31659640-C-G
• gnomAD v4: 21-31659640-C-G
• MyVariant Identifiers: chr21:g.33031953C>G (hg19) ; chr21:g.31659640C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659640C>G , CM000683.2:g.31659640C>G	GRCh38
NC_000021.8:g.33031953C>G , CM000683.1:g.33031953C>G	GRCh37
NC_000021.7:g.31953824C>G	NCBI36
NG_008689.1:g.5019C>G , LRG_652:g.5019C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.10:c.-130C>G	ENSP00000270142.6:n.-130C>G
NM_000454.4:c.-130C>G , LRG_652t1:c.-130C>G	NP_000445.1:n.-130C>G