Canonical Allele Identifier: CA2385881089
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31668549G= , CM000683.2:g.31668549G= GRCh38
NC_000021.8:g.33040862G= , CM000683.1:g.33040862G= GRCh37
NC_000021.7:g.31962733G= NCBI36
NG_008689.1:g.13928G= , LRG_652:g.13928G=

Transcript Alleles

HGVS Amino-acid Change
NM_000454.5:c.436G= MANE Select NP_000445.1:p.Ala146=
ENST00000270142.11:c.436G= MANE Select ENSP00000270142.7:p.Ala146=
NM_000454.4:c.436G= , LRG_652t1:c.436G= NP_000445.1:p.Ala146=
ENST00000270142.10:c.436G= ENSP00000270142.6:p.Ala146=
ENST00000389995.4:c.379G= ENSP00000374645.4:p.Ala127=
ENST00000470944.1:n.1364G=