Canonical Allele Identifier: CA2654223160
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31663745-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31663745T>C , CM000683.2:g.31663745T>C GRCh38
NC_000021.8:g.33036058T>C , CM000683.1:g.33036058T>C GRCh37
NC_000021.7:g.31957929T>C NCBI36
NG_008689.1:g.9124T>C , LRG_652:g.9124T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.73-45T>C MANE Select ENSP00000270142.7:n.73-45T>C
ENST00000270142.10:c.73-45T>C ENSP00000270142.6:n.73-45T>C
ENST00000389995.4:c.16-45T>C ENSP00000374645.4:n.16-45T>C
ENST00000470944.1:n.1001-45T>C
ENST00000476106.5:n.336-45T>C
NM_000454.4:c.73-45T>C , LRG_652t1:c.73-45T>C NP_000445.1:n.73-45T>C
NM_000454.5:c.73-45T>C MANE Select NP_000445.1:n.73-45T>C
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