Canonical Allele Identifier: CA410036106
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31659839-A-C
MyVariant Identifiers: chr21:g.33032152A>C (hg19) chr21:g.31659839A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659839A>C , CM000683.2:g.31659839A>C GRCh38
NC_000021.8:g.33032152A>C , CM000683.1:g.33032152A>C GRCh37
NC_000021.7:g.31954023A>C NCBI36
NG_008689.1:g.5218A>C , LRG_652:g.5218A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.70A>C MANE Select ENSP00000270142.7:p.Lys24Gln
ENST00000270142.10:c.70A>C ENSP00000270142.6:p.Lys24Gln
ENST00000389995.4:c.15+55A>C ENSP00000374645.4:n.15+55A>C
ENST00000470944.1:n.131A>C
ENST00000476106.5:n.147A>C
NM_000454.4:c.70A>C , LRG_652t1:c.70A>C NP_000445.1:p.Lys24Gln
NM_000454.5:c.70A>C MANE Select NP_000445.1:p.Lys24Gln
Search 100 bp 5'
Search 100 bp 3'