Canonical Allele Identifier: CA2385880474
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667368C= , CM000683.2:g.31667368C= GRCh38
NC_000021.8:g.33039681C= , CM000683.1:g.33039681C= GRCh37
NC_000021.7:g.31961552C= NCBI36
NG_008689.1:g.12747C= , LRG_652:g.12747C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.350C= MANE Select ENSP00000270142.7:p.Thr117=
ENST00000270142.10:c.350C= ENSP00000270142.6:p.Thr117=
ENST00000389995.4:c.293C= ENSP00000374645.4:p.Thr98=
ENST00000470944.1:n.1278C=
NM_000454.4:c.350C= , LRG_652t1:c.350C= NP_000445.1:p.Thr117=
NM_000454.5:c.350C= MANE Select NP_000445.1:p.Thr117=