Canonical Allele Identifier: CA410037480
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667311T>A , CM000683.2:g.31667311T>A GRCh38
NC_000021.8:g.33039624T>A , CM000683.1:g.33039624T>A GRCh37
NC_000021.7:g.31961495T>A NCBI36
NG_008689.1:g.12690T>A , LRG_652:g.12690T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.293T>A MANE Select ENSP00000270142.7:p.Val98Glu
ENST00000270142.10:c.293T>A ENSP00000270142.6:p.Val98Glu
ENST00000389995.4:c.236T>A ENSP00000374645.4:p.Val79Glu
ENST00000470944.1:n.1221T>A
ENST00000476106.5:n.556T>A
NM_000454.4:c.293T>A , LRG_652t1:c.293T>A NP_000445.1:p.Val98Glu
NM_000454.5:c.293T>A MANE Select NP_000445.1:p.Val98Glu