Canonical Allele Identifier: CA319330520

Gene: SOD1

Linked Data

• dbSNP Id: rs966452334
• gnomAD v2: 21-33031973-T-C
• gnomAD v3: 21-31659660-T-C
• gnomAD v4: 21-31659660-T-C
• MyVariant Identifiers: chr21:g.33031973T>C (hg19) ; chr21:g.31659660T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659660T>C , CM000683.2:g.31659660T>C	GRCh38
NC_000021.8:g.33031973T>C , CM000683.1:g.33031973T>C	GRCh37
NC_000021.7:g.31953844T>C	NCBI36
NG_008689.1:g.5039T>C , LRG_652:g.5039T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.10:c.-110T>C	ENSP00000270142.6:n.-110T>C
NM_000454.4:c.-110T>C , LRG_652t1:c.-110T>C	NP_000445.1:n.-110T>C