Canonical Allele Identifier: CA410037382
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667263T>A , CM000683.2:g.31667263T>A GRCh38
NC_000021.8:g.33039576T>A , CM000683.1:g.33039576T>A GRCh37
NC_000021.7:g.31961447T>A NCBI36
NG_008689.1:g.12642T>A , LRG_652:g.12642T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.245T>A MANE Select ENSP00000270142.7:p.Val82Asp
ENST00000270142.10:c.245T>A ENSP00000270142.6:p.Val82Asp
ENST00000389995.4:c.188T>A ENSP00000374645.4:p.Val63Asp
ENST00000470944.1:n.1173T>A
ENST00000476106.5:n.508T>A
NM_000454.4:c.245T>A , LRG_652t1:c.245T>A NP_000445.1:p.Val82Asp
NM_000454.5:c.245T>A MANE Select NP_000445.1:p.Val82Asp