Canonical Allele Identifier: CA10644526
Gene: SOD1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.31668917C>T
GRCh37 chr21:g.33041230C>T
gnomAD v2:
21:33041230 C / T
gnomAD v3:
21:31668917 C / T
gnomAD v4:
chr21-31668917-C-T
Joint Max Group AF 0.06500511 (EAS)
Genomes Max Group AF 0.0569876 (EAS)
Exomes Max Group AF 0.06877351 (EAS)
ClinVar RCV:
RCV000407681
ClinVar Variation:
339670
dbSNP:
17880487
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31668917C>T , CM000683.2:g.31668917C>T GRCh38
NC_000021.8:g.33041230C>T , CM000683.1:g.33041230C>T GRCh37
NC_000021.7:g.31963101C>T NCBI36
NG_008689.1:g.14296C>T , LRG_652:g.14296C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.*339C>T MANE Select ENSP00000270142.7:n.*339C>T
ENST00000270142.10:c.*339C>T ENSP00000270142.6:n.*339C>T
ENST00000389995.4:c.*339C>T ENSP00000374645.4:n.*339C>T
ENST00000470944.1:n.1732C>T
NM_000454.4:c.*339C>T , LRG_652t1:c.*339C>T NP_000445.1:n.*339C>T
NM_000454.5:c.*339C>T MANE Select NP_000445.1:n.*339C>T
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