Canonical Allele Identifier: CA9998859
Gene: SOD1 HGNC NCBI

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)
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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
Search 100 bp 5'
Search 100 bp 3'