Canonical Allele Identifier: CA319332792
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs986277034

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31663881C>G , CM000683.2:g.31663881C>G GRCh38
NC_000021.8:g.33036194C>G , CM000683.1:g.33036194C>G GRCh37
NC_000021.7:g.31958065C>G NCBI36
NG_008689.1:g.9260C>G , LRG_652:g.9260C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.164C>G MANE Select ENSP00000270142.7:p.Thr55Arg
ENST00000270142.10:c.164C>G ENSP00000270142.6:p.Thr55Arg
ENST00000389995.4:c.107C>G ENSP00000374645.4:p.Thr36Arg
ENST00000470944.1:n.1092C>G
ENST00000476106.5:n.427C>G
NM_000454.4:c.164C>G , LRG_652t1:c.164C>G NP_000445.1:p.Thr55Arg
NM_000454.5:c.164C>G MANE Select NP_000445.1:p.Thr55Arg