Canonical Allele Identifier: CA410036054

Gene: SOD1

Linked Data

• MyVariant Identifiers: chr21:g.33032140A>G (hg19) ; chr21:g.31659827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659827A>G , CM000683.2:g.31659827A>G	GRCh38
NC_000021.8:g.33032140A>G , CM000683.1:g.33032140A>G	GRCh37
NC_000021.7:g.31954011A>G	NCBI36
NG_008689.1:g.5206A>G , LRG_652:g.5206A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.58A>G MANE Select	ENSP00000270142.7:p.Asn20Asp
ENST00000270142.10:c.58A>G	ENSP00000270142.6:p.Asn20Asp
ENST00000389995.4:c.15+43A>G	ENSP00000374645.4:n.15+43A>G
ENST00000470944.1:n.119A>G
ENST00000476106.5:n.135A>G
NM_000454.4:c.58A>G , LRG_652t1:c.58A>G	NP_000445.1:p.Asn20Asp
NM_000454.5:c.58A>G MANE Select	NP_000445.1:p.Asn20Asp