Canonical Allele Identifier: CA637245851

Gene: SOD1

Linked Data

• dbSNP Id: rs1159078933
• gnomAD v2: 21-33031943-C-T
• gnomAD v3: 21-31659630-C-T
• gnomAD v4: 21-31659630-C-T
• MyVariant Identifiers: chr21:g.33031943C>T (hg19) ; chr21:g.31659630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659630C>T , CM000683.2:g.31659630C>T	GRCh38
NC_000021.8:g.33031943C>T , CM000683.1:g.33031943C>T	GRCh37
NC_000021.7:g.31953814C>T	NCBI36
NG_008689.1:g.5009C>T , LRG_652:g.5009C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.10:c.-140C>T	ENSP00000270142.6:n.-140C>T
NM_000454.4:c.-140C>T , LRG_652t1:c.-140C>T	NP_000445.1:n.-140C>T