Canonical Allele Identifier: CA410037478
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2138375
ClinVar RCV Id: RCV003050564
dbSNP Id: rs1555836806
MyVariant Identifiers: chr21:g.33039623G>C (hg19) chr21:g.31667310G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667310G>C , CM000683.2:g.31667310G>C GRCh38
NC_000021.8:g.33039623G>C , CM000683.1:g.33039623G>C GRCh37
NC_000021.7:g.31961494G>C NCBI36
NG_008689.1:g.12689G>C , LRG_652:g.12689G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.292G>C MANE Select ENSP00000270142.7:p.Val98Leu
ENST00000270142.10:c.292G>C ENSP00000270142.6:p.Val98Leu
ENST00000389995.4:c.235G>C ENSP00000374645.4:p.Val79Leu
ENST00000470944.1:n.1220G>C
ENST00000476106.5:n.555G>C
NM_000454.4:c.292G>C , LRG_652t1:c.292G>C NP_000445.1:p.Val98Leu
NM_000454.5:c.292G>C MANE Select NP_000445.1:p.Val98Leu
Search 100 bp 5'
Search 100 bp 3'