Canonical Allele Identifier: CA124298
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14767
dbSNP Id: rs121912445

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667331A>T , CM000683.2:g.31667331A>T GRCh38
NC_000021.8:g.33039644A>T , CM000683.1:g.33039644A>T GRCh37
NC_000021.7:g.31961515A>T NCBI36
NG_008689.1:g.12710A>T , LRG_652:g.12710A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.313A>T MANE Select ENSP00000270142.7:p.Ile105Phe
ENST00000270142.10:c.313A>T ENSP00000270142.6:p.Ile105Phe
ENST00000389995.4:c.256A>T ENSP00000374645.4:p.Ile86Phe
ENST00000470944.1:n.1241A>T
ENST00000476106.5:n.576A>T
NM_000454.4:c.313A>T , LRG_652t1:c.313A>T NP_000445.1:p.Ile105Phe
NM_000454.5:c.313A>T MANE Select NP_000445.1:p.Ile105Phe