Canonical Allele Identifier: CA410035894
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1500887
ClinVar RCV Id: RCV002015993
dbSNP Id: rs1312702973
MyVariant Identifiers: chr21:g.33032101T>A (hg19) chr21:g.31659788T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659788T>A , CM000683.2:g.31659788T>A GRCh38
NC_000021.8:g.33032101T>A , CM000683.1:g.33032101T>A GRCh37
NC_000021.7:g.31953972T>A NCBI36
NG_008689.1:g.5167T>A , LRG_652:g.5167T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.19T>A MANE Select ENSP00000270142.7:p.Cys7Ser
ENST00000270142.10:c.19T>A ENSP00000270142.6:p.Cys7Ser
ENST00000389995.4:c.15+4T>A ENSP00000374645.4:n.15+4T>A
ENST00000470944.1:n.80T>A
ENST00000476106.5:n.96T>A
NM_000454.4:c.19T>A , LRG_652t1:c.19T>A NP_000445.1:p.Cys7Ser
NM_000454.5:c.19T>A MANE Select NP_000445.1:p.Cys7Ser
Search 100 bp 5'
Search 100 bp 3'