Canonical Allele Identifier: CA512113794
Gene: SOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.33039679C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667366C>A , CM000683.2:g.31667366C>A GRCh38
NC_000021.8:g.33039679C>A , CM000683.1:g.33039679C>A GRCh37
NC_000021.7:g.31961550C>A NCBI36
NG_008689.1:g.12745C>A , LRG_652:g.12745C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.348C>A MANE Select ENSP00000270142.7:p.Arg116=
ENST00000270142.10:c.348C>A ENSP00000270142.6:p.Arg116=
ENST00000389995.4:c.291C>A ENSP00000374645.4:p.Arg97=
ENST00000470944.1:n.1276C>A
NM_000454.4:c.348C>A , LRG_652t1:c.348C>A NP_000445.1:p.Arg116=
NM_000454.5:c.348C>A MANE Select NP_000445.1:p.Arg116=
Search 100 bp 5'
Search 100 bp 3'