Canonical Allele Identifier: CA2654223249
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31664002-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31664002T>A , CM000683.2:g.31664002T>A GRCh38
NC_000021.8:g.33036315T>A , CM000683.1:g.33036315T>A GRCh37
NC_000021.7:g.31958186T>A NCBI36
NG_008689.1:g.9381T>A , LRG_652:g.9381T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.169+116T>A MANE Select ENSP00000270142.7:n.169+116T>A
ENST00000270142.10:c.169+116T>A ENSP00000270142.6:n.169+116T>A
ENST00000389995.4:c.112+116T>A ENSP00000374645.4:n.112+116T>A
ENST00000470944.1:n.1097+116T>A
ENST00000476106.5:n.432+116T>A
NM_000454.4:c.169+116T>A , LRG_652t1:c.169+116T>A NP_000445.1:n.169+116T>A
NM_000454.5:c.169+116T>A MANE Select NP_000445.1:n.169+116T>A
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