Canonical Allele Identifier: CA2385880442
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667323A= , CM000683.2:g.31667323A= GRCh38
NC_000021.8:g.33039636A= , CM000683.1:g.33039636A= GRCh37
NC_000021.7:g.31961507A= NCBI36
NG_008689.1:g.12702A= , LRG_652:g.12702A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.305A= MANE Select ENSP00000270142.7:p.Asp102=
ENST00000270142.10:c.305A= ENSP00000270142.6:p.Asp102=
ENST00000389995.4:c.248A= ENSP00000374645.4:p.Asp83=
ENST00000470944.1:n.1233A=
ENST00000476106.5:n.568A=
NM_000454.4:c.305A= , LRG_652t1:c.305A= NP_000445.1:p.Asp102=
NM_000454.5:c.305A= MANE Select NP_000445.1:p.Asp102=