Canonical Allele Identifier: CA410036831
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31663884C>A , CM000683.2:g.31663884C>A GRCh38
NC_000021.8:g.33036197C>A , CM000683.1:g.33036197C>A GRCh37
NC_000021.7:g.31958068C>A NCBI36
NG_008689.1:g.9263C>A , LRG_652:g.9263C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.167C>A MANE Select ENSP00000270142.7:p.Ala56Glu
ENST00000270142.10:c.167C>A ENSP00000270142.6:p.Ala56Glu
ENST00000389995.4:c.110C>A ENSP00000374645.4:p.Ala37Glu
ENST00000470944.1:n.1095C>A
ENST00000476106.5:n.430C>A
NM_000454.4:c.167C>A , LRG_652t1:c.167C>A NP_000445.1:p.Ala56Glu
NM_000454.5:c.167C>A MANE Select NP_000445.1:p.Ala56Glu