Canonical Allele Identifier: CA9998860

Gene: SOD1

Linked Data

• ClinVar Variation Id: 339668
• ClinVar RCV Id: RCV000387182
• dbSNP Id: rs756458346
• ExAC: 21:33032148 G / A
• gnomAD v2: 21-33032148-G-A
• gnomAD v4: 21-31659835-G-A
• MyVariant Identifiers: chr21:g.33032148G>A (hg19) ; chr21:g.31659835G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659835G>A , CM000683.2:g.31659835G>A	GRCh38
NC_000021.8:g.33032148G>A , CM000683.1:g.33032148G>A	GRCh37
NC_000021.7:g.31954019G>A	NCBI36
NG_008689.1:g.5214G>A , LRG_652:g.5214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.66G>A MANE Select	ENSP00000270142.7:p.Glu22=
ENST00000270142.10:c.66G>A	ENSP00000270142.6:p.Glu22=
ENST00000389995.4:c.15+51G>A	ENSP00000374645.4:n.15+51G>A
ENST00000470944.1:n.127G>A
ENST00000476106.5:n.143G>A
NM_000454.4:c.66G>A , LRG_652t1:c.66G>A	NP_000445.1:p.Glu22=
NM_000454.5:c.66G>A MANE Select	NP_000445.1:p.Glu22=