Canonical Allele Identifier: CA512111382
Gene: SOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.33032091G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659778G>A , CM000683.2:g.31659778G>A GRCh38
NC_000021.8:g.33032091G>A , CM000683.1:g.33032091G>A GRCh37
NC_000021.7:g.31953962G>A NCBI36
NG_008689.1:g.5157G>A , LRG_652:g.5157G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.9G>A MANE Select ENSP00000270142.7:p.Thr3=
ENST00000270142.10:c.9G>A ENSP00000270142.6:p.Thr3=
ENST00000389995.4:c.9G>A ENSP00000374645.4:p.Thr3=
ENST00000470944.1:n.70G>A
ENST00000476106.5:n.86G>A
NM_000454.4:c.9G>A , LRG_652t1:c.9G>A NP_000445.1:p.Thr3=
NM_000454.5:c.9G>A MANE Select NP_000445.1:p.Thr3=