Canonical Allele Identifier: CA410037465
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2197104
ClinVar RCV Id: RCV002624691
dbSNP Id: rs1568810686
gnomAD v4: 21-31667304-G-A
MyVariant Identifiers: chr21:g.33039617G>A (hg19) chr21:g.31667304G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667304G>A , CM000683.2:g.31667304G>A GRCh38
NC_000021.8:g.33039617G>A , CM000683.1:g.33039617G>A GRCh37
NC_000021.7:g.31961488G>A NCBI36
NG_008689.1:g.12683G>A , LRG_652:g.12683G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.286G>A MANE Select ENSP00000270142.7:p.Ala96Thr
ENST00000270142.10:c.286G>A ENSP00000270142.6:p.Ala96Thr
ENST00000389995.4:c.229G>A ENSP00000374645.4:p.Ala77Thr
ENST00000470944.1:n.1214G>A
ENST00000476106.5:n.549G>A
NM_000454.4:c.286G>A , LRG_652t1:c.286G>A NP_000445.1:p.Ala96Thr
NM_000454.5:c.286G>A MANE Select NP_000445.1:p.Ala96Thr
Search 100 bp 5'
Search 100 bp 3'