Canonical Allele Identifier: CA257333
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14763
dbSNP Id: rs121912442

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659783C>T , CM000683.2:g.31659783C>T GRCh38
NC_000021.8:g.33032096C>T , CM000683.1:g.33032096C>T GRCh37
NC_000021.7:g.31953967C>T NCBI36
NG_008689.1:g.5162C>T , LRG_652:g.5162C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.14C>T MANE Select ENSP00000270142.7:p.Ala5Val
ENST00000270142.10:c.14C>T ENSP00000270142.6:p.Ala5Val
ENST00000389995.4:c.14C>T ENSP00000374645.4:p.Ala5Val
ENST00000470944.1:n.75C>T
ENST00000476106.5:n.91C>T
NM_000454.4:c.14C>T , LRG_652t1:c.14C>T NP_000445.1:p.Ala5Val
NM_000454.5:c.14C>T MANE Select NP_000445.1:p.Ala5Val