Canonical Allele Identifier: CA2385876595
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659831T= , CM000683.2:g.31659831T= GRCh38
NC_000021.8:g.33032144T= , CM000683.1:g.33032144T= GRCh37
NC_000021.7:g.31954015T= NCBI36
NG_008689.1:g.5210T= , LRG_652:g.5210T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.62T= MANE Select ENSP00000270142.7:p.Phe21=
ENST00000270142.10:c.62T= ENSP00000270142.6:p.Phe21=
ENST00000389995.4:c.15+47T= ENSP00000374645.4:n.15+47T=
ENST00000470944.1:n.123T=
ENST00000476106.5:n.139T=
NM_000454.4:c.62T= , LRG_652t1:c.62T= NP_000445.1:p.Phe21=
NM_000454.5:c.62T= MANE Select NP_000445.1:p.Phe21=