Canonical Allele Identifier: CA2385880470
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667363C= , CM000683.2:g.31667363C= GRCh38
NC_000021.8:g.33039676C= , CM000683.1:g.33039676C= GRCh37
NC_000021.7:g.31961547C= NCBI36
NG_008689.1:g.12742C= , LRG_652:g.12742C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.345C= MANE Select ENSP00000270142.7:p.Gly115=
ENST00000270142.10:c.345C= ENSP00000270142.6:p.Gly115=
ENST00000389995.4:c.288C= ENSP00000374645.4:p.Gly96=
ENST00000470944.1:n.1273C=
NM_000454.4:c.345C= , LRG_652t1:c.345C= NP_000445.1:p.Gly115=
NM_000454.5:c.345C= MANE Select NP_000445.1:p.Gly115=