Canonical Allele Identifier: CA9998951
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs760740095
ExAC: 21:33039629 A / G
gnomAD v2: 21-33039629-A-G
gnomAD v4: 21-31667316-A-G
MyVariant Identifiers: chr21:g.33039629A>G (hg19) chr21:g.31667316A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667316A>G , CM000683.2:g.31667316A>G GRCh38
NC_000021.8:g.33039629A>G , CM000683.1:g.33039629A>G GRCh37
NC_000021.7:g.31961500A>G NCBI36
NG_008689.1:g.12695A>G , LRG_652:g.12695A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.298A>G MANE Select ENSP00000270142.7:p.Ile100Val
ENST00000270142.10:c.298A>G ENSP00000270142.6:p.Ile100Val
ENST00000389995.4:c.241A>G ENSP00000374645.4:p.Ile81Val
ENST00000470944.1:n.1226A>G
ENST00000476106.5:n.561A>G
NM_000454.4:c.298A>G , LRG_652t1:c.298A>G NP_000445.1:p.Ile100Val
NM_000454.5:c.298A>G MANE Select NP_000445.1:p.Ile100Val
Search 100 bp 5'
Search 100 bp 3'