Canonical Allele Identifier: CA9998864

Gene: SOD1

Linked Data

• ClinVar Variation Id: 1328020
• ClinVar RCV Id: RCV001794968 ; RCV002074125
• dbSNP Id: rs201574089
• ExAC: 21:33032173 G / A
• gnomAD v2: 21-33032173-G-A
• gnomAD v3: 21-31659860-G-A
• gnomAD v4: 21-31659860-G-A
• MyVariant Identifiers: chr21:g.33032173G>A (hg19) ; chr21:g.31659860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659860G>A , CM000683.2:g.31659860G>A	GRCh38
NC_000021.8:g.33032173G>A , CM000683.1:g.33032173G>A	GRCh37
NC_000021.7:g.31954044G>A	NCBI36
NG_008689.1:g.5239G>A , LRG_652:g.5239G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.72+19G>A MANE Select	ENSP00000270142.7:n.72+19G>A
ENST00000270142.10:c.72+19G>A	ENSP00000270142.6:n.72+19G>A
ENST00000389995.4:c.15+76G>A	ENSP00000374645.4:n.15+76G>A
ENST00000470944.1:n.152G>A
ENST00000476106.5:n.149+19G>A
NM_000454.4:c.72+19G>A , LRG_652t1:c.72+19G>A	NP_000445.1:n.72+19G>A
NM_000454.5:c.72+19G>A MANE Select	NP_000445.1:n.72+19G>A