Canonical Allele Identifier: CA1021813874
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs2049608175
gnomAD v3: 21-31667663-T-G
gnomAD v4: 21-31667663-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667663T>G , CM000683.2:g.31667663T>G GRCh38
NC_000021.8:g.33039976T>G , CM000683.1:g.33039976T>G GRCh37
NC_000021.7:g.31961847T>G NCBI36
NG_008689.1:g.13042T>G , LRG_652:g.13042T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+288T>G MANE Select ENSP00000270142.7:n.357+288T>G
ENST00000270142.10:c.357+288T>G ENSP00000270142.6:n.357+288T>G
ENST00000389995.4:c.300+288T>G ENSP00000374645.4:n.300+288T>G
ENST00000470944.1:n.1285+288T>G
NM_000454.4:c.357+288T>G , LRG_652t1:c.357+288T>G NP_000445.1:n.357+288T>G
NM_000454.5:c.357+288T>G MANE Select NP_000445.1:n.357+288T>G
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