Canonical Allele Identifier: CA9998839
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs200447364
ExAC: 21:33032038 C / A
gnomAD v3: 21-31659725-C-A
gnomAD v4: 21-31659725-C-A
MyVariant Identifiers: chr21:g.33032038C>A (hg19) chr21:g.31659725C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659725C>A , CM000683.2:g.31659725C>A GRCh38
NC_000021.8:g.33032038C>A , CM000683.1:g.33032038C>A GRCh37
NC_000021.7:g.31953909C>A NCBI36
NG_008689.1:g.5104C>A , LRG_652:g.5104C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.-45C>A MANE Select ENSP00000270142.7:n.-45C>A
ENST00000270142.10:c.-45C>A ENSP00000270142.6:n.-45C>A
ENST00000389995.4:c.-45C>A ENSP00000374645.4:n.-45C>A
ENST00000470944.1:n.17C>A
ENST00000476106.5:n.33C>A
NM_000454.4:c.-45C>A , LRG_652t1:c.-45C>A NP_000445.1:n.-45C>A
NM_000454.5:c.-45C>A MANE Select NP_000445.1:n.-45C>A
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