Canonical Allele Identifier: CA748618263
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1280478341
gnomAD v4: 21-31659653-T-A
MyVariant Identifiers: chr21:g.33031966T>A (hg19) chr21:g.31659653T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659653T>A , CM000683.2:g.31659653T>A GRCh38
NC_000021.8:g.33031966T>A , CM000683.1:g.33031966T>A GRCh37
NC_000021.7:g.31953837T>A NCBI36
NG_008689.1:g.5032T>A , LRG_652:g.5032T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.10:c.-117T>A ENSP00000270142.6:n.-117T>A
NM_000454.4:c.-117T>A , LRG_652t1:c.-117T>A NP_000445.1:n.-117T>A
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