Canonical Allele Identifier: CA2385876477
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659697C= , CM000683.2:g.31659697C= GRCh38
NC_000021.8:g.33032010C= , CM000683.1:g.33032010C= GRCh37
NC_000021.7:g.31953881C= NCBI36
NG_008689.1:g.5076C= , LRG_652:g.5076C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.-73C= MANE Select ENSP00000270142.7:n.-73C=
ENST00000270142.10:c.-73C= ENSP00000270142.6:n.-73C=
ENST00000389995.4:c.-73C= ENSP00000374645.4:n.-73C=
ENST00000476106.5:n.5C=
NM_000454.4:c.-73C= , LRG_652t1:c.-73C= NP_000445.1:n.-73C=
NM_000454.5:c.-73C= MANE Select NP_000445.1:n.-73C=