Canonical Allele Identifier: CA1021813870
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1780352520
gnomAD v3: 21-31667632-A-T
gnomAD v4: 21-31667632-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667632A>T , CM000683.2:g.31667632A>T GRCh38
NC_000021.8:g.33039945A>T , CM000683.1:g.33039945A>T GRCh37
NC_000021.7:g.31961816A>T NCBI36
NG_008689.1:g.13011A>T , LRG_652:g.13011A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+257A>T MANE Select ENSP00000270142.7:n.357+257A>T
ENST00000270142.10:c.357+257A>T ENSP00000270142.6:n.357+257A>T
ENST00000389995.4:c.300+257A>T ENSP00000374645.4:n.300+257A>T
ENST00000470944.1:n.1285+257A>T
NM_000454.4:c.357+257A>T , LRG_652t1:c.357+257A>T NP_000445.1:n.357+257A>T
NM_000454.5:c.357+257A>T MANE Select NP_000445.1:n.357+257A>T
Search 100 bp 5'
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