Canonical Allele Identifier: CA410037548

Gene: SOD1

Linked Data

• dbSNP Id: rs1359299834
• MyVariant Identifiers: chr21:g.33039657G>T (hg19) ; chr21:g.31667344G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667344G>T , CM000683.2:g.31667344G>T	GRCh38
NC_000021.8:g.33039657G>T , CM000683.1:g.33039657G>T	GRCh37
NC_000021.7:g.31961528G>T	NCBI36
NG_008689.1:g.12723G>T , LRG_652:g.12723G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.326G>T MANE Select	ENSP00000270142.7:p.Gly109Val
ENST00000270142.10:c.326G>T	ENSP00000270142.6:p.Gly109Val
ENST00000389995.4:c.269G>T	ENSP00000374645.4:p.Gly90Val
ENST00000470944.1:n.1254G>T
NM_000454.4:c.326G>T , LRG_652t1:c.326G>T	NP_000445.1:p.Gly109Val
NM_000454.5:c.326G>T MANE Select	NP_000445.1:p.Gly109Val