Canonical Allele Identifier: CA512111459
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2026923
ClinVar RCV Id: RCV002858514
dbSNP Id: rs1601153464
MyVariant Identifiers: chr21:g.33032142T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659829T>C , CM000683.2:g.31659829T>C GRCh38
NC_000021.8:g.33032142T>C , CM000683.1:g.33032142T>C GRCh37
NC_000021.7:g.31954013T>C NCBI36
NG_008689.1:g.5208T>C , LRG_652:g.5208T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.60T>C MANE Select ENSP00000270142.7:p.Asn20=
ENST00000270142.10:c.60T>C ENSP00000270142.6:p.Asn20=
ENST00000389995.4:c.15+45T>C ENSP00000374645.4:n.15+45T>C
ENST00000470944.1:n.121T>C
ENST00000476106.5:n.137T>C
NM_000454.4:c.60T>C , LRG_652t1:c.60T>C NP_000445.1:p.Asn20=
NM_000454.5:c.60T>C MANE Select NP_000445.1:p.Asn20=
Search 100 bp 5'
Search 100 bp 3'