Canonical Allele Identifier: CA257343
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14771
ClinVar RCV Id: RCV000015894
dbSNP Id: rs121912448

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659789G>T , CM000683.2:g.31659789G>T GRCh38
NC_000021.8:g.33032102G>T , CM000683.1:g.33032102G>T GRCh37
NC_000021.7:g.31953973G>T NCBI36
NG_008689.1:g.5168G>T , LRG_652:g.5168G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.20G>T MANE Select ENSP00000270142.7:p.Cys7Phe
ENST00000270142.10:c.20G>T ENSP00000270142.6:p.Cys7Phe
ENST00000389995.4:c.15+5G>T ENSP00000374645.4:n.15+5G>T
ENST00000470944.1:n.81G>T
ENST00000476106.5:n.97G>T
NM_000454.4:c.20G>T , LRG_652t1:c.20G>T NP_000445.1:p.Cys7Phe
NM_000454.5:c.20G>T MANE Select NP_000445.1:p.Cys7Phe