Canonical Allele Identifier: CA512111461
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31659838-G-A
MyVariant Identifiers: chr21:g.33032151G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659838G>A , CM000683.2:g.31659838G>A GRCh38
NC_000021.8:g.33032151G>A , CM000683.1:g.33032151G>A GRCh37
NC_000021.7:g.31954022G>A NCBI36
NG_008689.1:g.5217G>A , LRG_652:g.5217G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.69G>A MANE Select ENSP00000270142.7:p.Gln23=
ENST00000270142.10:c.69G>A ENSP00000270142.6:p.Gln23=
ENST00000389995.4:c.15+54G>A ENSP00000374645.4:n.15+54G>A
ENST00000470944.1:n.130G>A
ENST00000476106.5:n.146G>A
NM_000454.4:c.69G>A , LRG_652t1:c.69G>A NP_000445.1:p.Gln23=
NM_000454.5:c.69G>A MANE Select NP_000445.1:p.Gln23=
Search 100 bp 5'
Search 100 bp 3'