Canonical Allele Identifier: CA2385876723
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660034G= , CM000683.2:g.31660034G= GRCh38
NC_000021.8:g.33032347G= , CM000683.1:g.33032347G= GRCh37
NC_000021.7:g.31954218G= NCBI36
NG_008689.1:g.5413G= , LRG_652:g.5413G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+193G= MANE Select ENSP00000270142.7:n.72+193G=
ENST00000270142.10:c.72+193G= ENSP00000270142.6:n.72+193G=
ENST00000389995.4:c.15+250G= ENSP00000374645.4:n.15+250G=
ENST00000470944.1:n.326G=
ENST00000476106.5:n.149+193G=
NM_000454.4:c.72+193G= , LRG_652t1:c.72+193G= NP_000445.1:n.72+193G=
NM_000454.5:c.72+193G= MANE Select NP_000445.1:n.72+193G=