Canonical Allele Identifier: CA9998859

Gene: SOD1

Linked Data

• ClinVar Variation Id: 516816
• ClinVar RCV Id: RCV000611073 ; RCV000689563
• dbSNP Id: rs768029813
• ExAC: 21:33032141 A / G
• gnomAD v2: 21-33032141-A-G
• gnomAD v3: 21-31659828-A-G
• gnomAD v4: 21-31659828-A-G
• MyVariant Identifiers: chr21:g.33032141A>G (hg19) ; chr21:g.31659828A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659828A>G , CM000683.2:g.31659828A>G	GRCh38
NC_000021.8:g.33032141A>G , CM000683.1:g.33032141A>G	GRCh37
NC_000021.7:g.31954012A>G	NCBI36
NG_008689.1:g.5207A>G , LRG_652:g.5207A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.59A>G MANE Select	ENSP00000270142.7:p.Asn20Ser
ENST00000270142.10:c.59A>G	ENSP00000270142.6:p.Asn20Ser
ENST00000389995.4:c.15+44A>G	ENSP00000374645.4:n.15+44A>G
ENST00000470944.1:n.120A>G
ENST00000476106.5:n.136A>G
NM_000454.4:c.59A>G , LRG_652t1:c.59A>G	NP_000445.1:p.Asn20Ser
NM_000454.5:c.59A>G MANE Select	NP_000445.1:p.Asn20Ser