Canonical Allele Identifier: CA275244
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197145
dbSNP Id: rs121912441

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667359T>C , CM000683.2:g.31667359T>C GRCh38
NC_000021.8:g.33039672T>C , CM000683.1:g.33039672T>C GRCh37
NC_000021.7:g.31961543T>C NCBI36
NG_008689.1:g.12738T>C , LRG_652:g.12738T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.341T>C MANE Select ENSP00000270142.7:p.Ile114Thr
ENST00000270142.10:c.341T>C ENSP00000270142.6:p.Ile114Thr
ENST00000389995.4:c.284T>C ENSP00000374645.4:p.Ile95Thr
ENST00000470944.1:n.1269T>C
NM_000454.4:c.341T>C , LRG_652t1:c.341T>C NP_000445.1:p.Ile114Thr
NM_000454.5:c.341T>C MANE Select NP_000445.1:p.Ile114Thr