Canonical Allele Identifier: CA410036099
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 873323
ClinVar RCV Id: RCV001095543
dbSNP Id: rs1169198442
gnomAD v2: 21-33032150-A-T
MyVariant Identifiers: chr21:g.33032150A>T (hg19) chr21:g.31659837A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659837A>T , CM000683.2:g.31659837A>T GRCh38
NC_000021.8:g.33032150A>T , CM000683.1:g.33032150A>T GRCh37
NC_000021.7:g.31954021A>T NCBI36
NG_008689.1:g.5216A>T , LRG_652:g.5216A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.68A>T MANE Select ENSP00000270142.7:p.Gln23Leu
ENST00000270142.10:c.68A>T ENSP00000270142.6:p.Gln23Leu
ENST00000389995.4:c.15+53A>T ENSP00000374645.4:n.15+53A>T
ENST00000470944.1:n.129A>T
ENST00000476106.5:n.145A>T
NM_000454.4:c.68A>T , LRG_652t1:c.68A>T NP_000445.1:p.Gln23Leu
NM_000454.5:c.68A>T MANE Select NP_000445.1:p.Gln23Leu
Search 100 bp 5'
Search 100 bp 3'