Canonical Allele Identifier: CA637245856
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1422702291
gnomAD v2: 21-33031949-T-A
gnomAD v3: 21-31659636-T-A
gnomAD v4: 21-31659636-T-A
MyVariant Identifiers: chr21:g.33031949T>A (hg19) chr21:g.31659636T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659636T>A , CM000683.2:g.31659636T>A GRCh38
NC_000021.8:g.33031949T>A , CM000683.1:g.33031949T>A GRCh37
NC_000021.7:g.31953820T>A NCBI36
NG_008689.1:g.5015T>A , LRG_652:g.5015T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.10:c.-134T>A ENSP00000270142.6:n.-134T>A
NM_000454.4:c.-134T>A , LRG_652t1:c.-134T>A NP_000445.1:n.-134T>A
Search 100 bp 5'
Search 100 bp 3'