Canonical Allele Identifier: CA319330561

Gene: SOD1

Linked Data

• dbSNP Id: rs909291858
• gnomAD v3: 21-31659684-T-C
• gnomAD v4: 21-31659684-T-C
• MyVariant Identifiers: chr21:g.33031997T>C (hg19) ; chr21:g.31659684T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659684T>C , CM000683.2:g.31659684T>C	GRCh38
NC_000021.8:g.33031997T>C , CM000683.1:g.33031997T>C	GRCh37
NC_000021.7:g.31953868T>C	NCBI36
NG_008689.1:g.5063T>C , LRG_652:g.5063T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.10:c.-86T>C	ENSP00000270142.6:n.-86T>C
ENST00000389995.4:c.-86T>C	ENSP00000374645.4:n.-86T>C
NM_000454.4:c.-86T>C , LRG_652t1:c.-86T>C	NP_000445.1:n.-86T>C