Canonical Allele Identifier: CA512111524

Gene: SOD1

Linked Data

• ClinVar Variation Id: 2031011
• ClinVar RCV Id: RCV002872130
• MyVariant Identifiers: chr21:g.33036195A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31663882A>G , CM000683.2:g.31663882A>G	GRCh38
NC_000021.8:g.33036195A>G , CM000683.1:g.33036195A>G	GRCh37
NC_000021.7:g.31958066A>G	NCBI36
NG_008689.1:g.9261A>G , LRG_652:g.9261A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.165A>G MANE Select	ENSP00000270142.7:p.Thr55=
ENST00000270142.10:c.165A>G	ENSP00000270142.6:p.Thr55=
ENST00000389995.4:c.108A>G	ENSP00000374645.4:p.Thr36=
ENST00000470944.1:n.1093A>G
ENST00000476106.5:n.428A>G
NM_000454.4:c.165A>G , LRG_652t1:c.165A>G	NP_000445.1:p.Thr55=
NM_000454.5:c.165A>G MANE Select	NP_000445.1:p.Thr55=