Canonical Allele Identifier: CA2385876560
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659783C= , CM000683.2:g.31659783C= GRCh38
NC_000021.8:g.33032096C= , CM000683.1:g.33032096C= GRCh37
NC_000021.7:g.31953967C= NCBI36
NG_008689.1:g.5162C= , LRG_652:g.5162C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.14C= MANE Select ENSP00000270142.7:p.Ala5=
ENST00000270142.10:c.14C= ENSP00000270142.6:p.Ala5=
ENST00000389995.4:c.14C= ENSP00000374645.4:p.Ala5=
ENST00000470944.1:n.75C=
ENST00000476106.5:n.91C=
NM_000454.4:c.14C= , LRG_652t1:c.14C= NP_000445.1:p.Ala5=
NM_000454.5:c.14C= MANE Select NP_000445.1:p.Ala5=