Canonical Allele Identifier: CA257323
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14758
ClinVar RCV Id: RCV000015880
dbSNP Id: rs121912436

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667274G>C , CM000683.2:g.31667274G>C GRCh38
NC_000021.8:g.33039587G>C , CM000683.1:g.33039587G>C GRCh37
NC_000021.7:g.31961458G>C NCBI36
NG_008689.1:g.12653G>C , LRG_652:g.12653G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.256G>C MANE Select ENSP00000270142.7:p.Gly86Arg
ENST00000270142.10:c.256G>C ENSP00000270142.6:p.Gly86Arg
ENST00000389995.4:c.199G>C ENSP00000374645.4:p.Gly67Arg
ENST00000470944.1:n.1184G>C
ENST00000476106.5:n.519G>C
NM_000454.4:c.256G>C , LRG_652t1:c.256G>C NP_000445.1:p.Gly86Arg
NM_000454.5:c.256G>C MANE Select NP_000445.1:p.Gly86Arg