Canonical Allele Identifier: CA2385876504
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs775589608
gnomAD v4: 21-31659721-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659721T>C , CM000683.2:g.31659721T>C GRCh38
NC_000021.8:g.33032034T>C , CM000683.1:g.33032034T>C GRCh37
NC_000021.7:g.31953905T>C NCBI36
NG_008689.1:g.5100T>C , LRG_652:g.5100T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.-49T>C MANE Select ENSP00000270142.7:n.-49T>C
ENST00000270142.10:c.-49T>C ENSP00000270142.6:n.-49T>C
ENST00000389995.4:c.-49T>C ENSP00000374645.4:n.-49T>C
ENST00000470944.1:n.13T>C
ENST00000476106.5:n.29T>C
NM_000454.4:c.-49T>C , LRG_652t1:c.-49T>C NP_000445.1:n.-49T>C
NM_000454.5:c.-49T>C MANE Select NP_000445.1:n.-49T>C
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