Canonical Allele Identifier: CA257360
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14780
ClinVar RCV Id: RCV000015903
dbSNP Id: rs121912456

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659806G>C , CM000683.2:g.31659806G>C GRCh38
NC_000021.8:g.33032119G>C , CM000683.1:g.33032119G>C GRCh37
NC_000021.7:g.31953990G>C NCBI36
NG_008689.1:g.5185G>C , LRG_652:g.5185G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.37G>C MANE Select ENSP00000270142.7:p.Gly13Arg
ENST00000270142.10:c.37G>C ENSP00000270142.6:p.Gly13Arg
ENST00000389995.4:c.15+22G>C ENSP00000374645.4:n.15+22G>C
ENST00000470944.1:n.98G>C
ENST00000476106.5:n.114G>C
NM_000454.4:c.37G>C , LRG_652t1:c.37G>C NP_000445.1:p.Gly13Arg
NM_000454.5:c.37G>C MANE Select NP_000445.1:p.Gly13Arg