Canonical Allele Identifier: CA319332718
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs201746008
gnomAD v3: 21-31663765-C-G
gnomAD v4: 21-31663765-C-G
MyVariant Identifiers: chr21:g.33036078C>G (hg19) chr21:g.31663765C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31663765C>G , CM000683.2:g.31663765C>G GRCh38
NC_000021.8:g.33036078C>G , CM000683.1:g.33036078C>G GRCh37
NC_000021.7:g.31957949C>G NCBI36
NG_008689.1:g.9144C>G , LRG_652:g.9144C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.73-25C>G MANE Select ENSP00000270142.7:n.73-25C>G
ENST00000270142.10:c.73-25C>G ENSP00000270142.6:n.73-25C>G
ENST00000389995.4:c.16-25C>G ENSP00000374645.4:n.16-25C>G
ENST00000470944.1:n.1001-25C>G
ENST00000476106.5:n.336-25C>G
NM_000454.4:c.73-25C>G , LRG_652t1:c.73-25C>G NP_000445.1:n.73-25C>G
NM_000454.5:c.73-25C>G MANE Select NP_000445.1:n.73-25C>G
Search 100 bp 5'
Search 100 bp 3'