Canonical Allele Identifier: CA2385876582
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659814G= , CM000683.2:g.31659814G= GRCh38
NC_000021.8:g.33032127G= , CM000683.1:g.33032127G= GRCh37
NC_000021.7:g.31953998G= NCBI36
NG_008689.1:g.5193G= , LRG_652:g.5193G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.45G= MANE Select ENSP00000270142.7:p.Val15=
ENST00000270142.10:c.45G= ENSP00000270142.6:p.Val15=
ENST00000389995.4:c.15+30G= ENSP00000374645.4:n.15+30G=
ENST00000470944.1:n.106G=
ENST00000476106.5:n.122G=
NM_000454.4:c.45G= , LRG_652t1:c.45G= NP_000445.1:p.Val15=
NM_000454.5:c.45G= MANE Select NP_000445.1:p.Val15=