Canonical Allele Identifier: CA257341
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14769
ClinVar RCV Id: RCV000015892
dbSNP Id: rs121912447

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31668549G>A , CM000683.2:g.31668549G>A GRCh38
NC_000021.8:g.33040862G>A , CM000683.1:g.33040862G>A GRCh37
NC_000021.7:g.31962733G>A NCBI36
NG_008689.1:g.13928G>A , LRG_652:g.13928G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.436G>A MANE Select ENSP00000270142.7:p.Ala146Thr
ENST00000270142.10:c.436G>A ENSP00000270142.6:p.Ala146Thr
ENST00000389995.4:c.379G>A ENSP00000374645.4:p.Ala127Thr
ENST00000470944.1:n.1364G>A
NM_000454.4:c.436G>A , LRG_652t1:c.436G>A NP_000445.1:p.Ala146Thr
NM_000454.5:c.436G>A MANE Select NP_000445.1:p.Ala146Thr